Variantyx, Inc.
General information
Variantyx, Inc.
1671 Worcester Rd, Suite 300
Framingham
Massachusetts
United States - 01701
https://www.variantyx.com/
Organization ID: 506526
1671 Worcester Rd, Suite 300
Framingham
Massachusetts
United States - 01701
https://www.variantyx.com/
Organization ID: 506526
Personnel
- Alex Kaplun, Informatics staff
Phone: 6172092090
Email: alex.kaplun@variantyx.com - Ariel Martinez, Contact
Phone: 6172092090
Email: ariel.martinez@variantyx.com - shira modai, Coordinator
Phone: 6172092090
Email: shira.modai@variantyx.com - Lana Sheta, Contact
Phone: 6172092090
Email: lana.sheta@variantyx.com - Christine Stanley, Lab Director
Phone: 6172092090
Email: christine.stanley@variantyx.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 20
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCA4 | 1 | Nov 18, 2022 |
ANKRD11 | 1 | Nov 18, 2022 |
BRCA2 | 1 | Nov 18, 2022 |
BTD | 1 | Nov 18, 2022 |
COL4A2 | 1 | Jan 27, 2021 |
COL4A2-AS1 | 1 | Jan 27, 2021 |
F5 | 1 | Nov 18, 2022 |
FAR1 | 1 | Nov 18, 2022 |
FBXO11 | 1 | Nov 18, 2022 |
LAMA2 | 1 | Nov 18, 2022 |
LOC100506235 | 1 | Nov 18, 2022 |
MFN2 | 1 | Nov 18, 2022 |
NARS1 | 1 | Nov 18, 2022 |
POLR3A | 2 | Nov 18, 2022 |
SACS | 1 | Nov 18, 2022 |
SCN8A | 1 | Nov 18, 2022 |
SHANK3 | 1 | Nov 18, 2022 |
SYNGAP1 | 1 | Jan 30, 2023 |
TTR | 1 | Nov 18, 2022 |
USH2A | 1 | Nov 18, 2022 |
VWF | 1 | Nov 18, 2022 |
Condition
Name | Submissions | Last Updated |
---|---|---|
ABCA4-related disorder | 1 | Nov 18, 2022 |
Amyloidosis, hereditary systemic 1 | 1 | Nov 18, 2022 |
Biotinidase deficiency | 1 | Nov 18, 2022 |
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | 1 | Nov 18, 2022 |
Charlevoix-Saguenay spastic ataxia | 1 | Nov 18, 2022 |
Hereditary breast ovarian cancer syndrome | 1 | Nov 18, 2022 |
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Nov 18, 2022 |
Intellectual disability, autosomal dominant 5 | 1 | Jan 30, 2023 |
KBG syndrome | 1 | Nov 18, 2022 |
LAMA2-related disorder | 1 | Nov 18, 2022 |
MFN2-related disorder | 1 | Nov 18, 2022 |
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities | 1 | Nov 18, 2022 |
POLR3A-related disorder | 2 | Nov 18, 2022 |
Phelan-McDermid syndrome | 1 | Nov 18, 2022 |
Porencephaly 2 | 1 | Jan 27, 2021 |
SCN8A-related disorder | 1 | Nov 18, 2022 |
Thrombophilia due to activated protein C resistance | 1 | Nov 18, 2022 |
USH2A-related disorder | 1 | Nov 18, 2022 |
von Willebrand disease type 2N | 1 | Nov 18, 2022 |
Testing in GTR
Disease name | Number of tests |
---|---|
Amyotrophic lateral sclerosis | 1 test |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability | 2 tests |
Ataxia-telangiectasia syndrome | 1 test |
Ataxia-telangiectasia-like disorder | 1 test |
Autosomal recessive ataxia due to ubiquinone deficiency | 1 test |
Autosomal recessive ataxia, Beauce type | 1 test |
Autosomal recessive axonal neuropathy with neuromyotonia | 1 test |
Autosomal recessive spinocerebellar ataxia 10 | 1 test |
Autosomal recessive spinocerebellar ataxia 11 | 1 test |
Autosomal recessive spinocerebellar ataxia 13 | 1 test |
Autosomal recessive spinocerebellar ataxia 16 | 1 test |
Autosomal recessive spinocerebellar ataxia 20 | 1 test |
Azorean disease | 2 tests |
Becker muscular dystrophy | 2 tests |
Behavioral variant of frontotemporal dementia | 1 test |
Charcot-Marie-Tooth disease | 1 test |
Charlevoix-Saguenay spastic ataxia | 2 tests |
Congenital myasthenic syndrome | 1 test |
Congenital myopathy | 1 test |
Dementia, Lewy body, susceptibility to | 1 test |
Dentatorubral-pallidoluysian atrophy | 2 tests |
Developmental delay | 1 test |
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing | 1 test |
Disorder of endocrine system | 1 test |
Distal spinal muscular atrophy | 1 test |
Drug metabolism or response | 1 test |
Duchenne muscular dystrophy | 2 tests |
Dyssynergia | 2 tests |
Dystonic disorder | 1 test |
Epilepsy | 1 test |
Episodic ataxia type 1 | 1 test |
Episodic ataxia type 2 | 1 test |
Episodic ataxia type 5 | 1 test |
Episodic ataxia type 6 | 1 test |
FRAXE | 1 test |
Fragile X syndrome | 2 tests |
Fragile X-associated tremor/ataxia syndrome | 1 test |
Friedreich ataxia | 2 tests |
Frontotemporal dementia | 2 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis | 2 tests |
Hereditary ataxia | 1 test |
Hereditary cancer | 5 tests |
Hereditary cancer-predisposing syndrome | 2 tests |
Hereditary cerebellar ataxia | 1 test |
Hereditary dementia | 1 test |
Hereditary disease | 19 tests |
Hereditary liability to pressure palsies | 1 test |
Hereditary motor and sensory neuropathy | 1 test |
Hereditary spastic paraplegia | 1 test |
Human disease | 1 test |
Infantile onset spinocerebellar ataxia | 1 test |
Intellectual developmental disorder with autism and dysmorphic facies | 1 test |
Intellectual disability | 1 test |
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 test |
Kennedy disease | 1 test |
Lewy body dementia | 1 test |
Marinesco-Sjögren syndrome | 1 test |
Miscarriage | 1 test |
Mitochondrial disease | 4 tests |
Movement disorder | 2 tests |
Muscular dystrophy | 2 tests |
Myotonic dystrophy type 2 | 1 test |
Pontoneocerebellar hypoplasia | 1 test |
Riboflavin transporter deficiency | 1 test |
Solid tumor | 1 test |
Spastic ataxia 4 | 1 test |
Spastic ataxia 5 | 1 test |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 test |
Spinal muscular atrophy | 1 test |
Spinocerebellar ataxia 43 | 1 test |
Spinocerebellar ataxia 48 | 1 test |
Spinocerebellar ataxia 7 | 2 tests |
Spinocerebellar ataxia type 1 | 2 tests |
Spinocerebellar ataxia type 10 | 2 tests |
Spinocerebellar ataxia type 11 | 1 test |
Spinocerebellar ataxia type 12 | 2 tests |
Spinocerebellar ataxia type 13 | 1 test |
Spinocerebellar ataxia type 14 | 1 test |
Spinocerebellar ataxia type 17 | 2 tests |
Spinocerebellar ataxia type 19/22 | 1 test |
Spinocerebellar ataxia type 2 | 2 tests |
Spinocerebellar ataxia type 21 | 1 test |
Spinocerebellar ataxia type 23 | 1 test |
Spinocerebellar ataxia type 26 | 1 test |
Spinocerebellar ataxia type 27 | 1 test |
Spinocerebellar ataxia type 28 | 1 test |
Spinocerebellar ataxia type 29 | 1 test |
Spinocerebellar ataxia type 34 | 1 test |
Spinocerebellar ataxia type 35 | 1 test |
Spinocerebellar ataxia type 36 | 2 tests |
Spinocerebellar ataxia type 38 | 1 test |
Spinocerebellar ataxia type 42 | 1 test |
Spinocerebellar ataxia type 5 | 1 test |
Spinocerebellar ataxia type 6 | 2 tests |
Spinocerebellar ataxia type 8 | 2 tests |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy | 1 test |
Steinert myotonic dystrophy syndrome | 1 test |
Ultrasound anomalies | 1 test |
Walker-Warburg congenital muscular dystrophy | 1 test |