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Variantyx, Inc.

General information

Variantyx, Inc.

1671 Worcester Rd, Suite 300
Framingham
Massachusetts
United States - 01701
https://www.variantyx.com/
Organization ID: 506526

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 20

Gene

GeneSubmissionsLast Updated
ABCA41Nov 18, 2022
ANKRD111Nov 18, 2022
BRCA21Nov 18, 2022
BTD1Nov 18, 2022
COL4A21Jan 27, 2021
COL4A2-AS11Jan 27, 2021
F51Nov 18, 2022
FAR11Nov 18, 2022
FBXO111Nov 18, 2022
LAMA21Nov 18, 2022
LOC1005062351Nov 18, 2022
MFN21Nov 18, 2022
NARS11Nov 18, 2022
POLR3A2Nov 18, 2022
SACS1Nov 18, 2022
SCN8A1Nov 18, 2022
SHANK31Nov 18, 2022
SYNGAP11Jan 30, 2023
TTR1Nov 18, 2022
USH2A1Nov 18, 2022
VWF1Nov 18, 2022

Condition

NameSubmissionsLast Updated
ABCA4-related disorder1Nov 18, 2022
Amyloidosis, hereditary systemic 11Nov 18, 2022
Biotinidase deficiency1Nov 18, 2022
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY1Nov 18, 2022
Charlevoix-Saguenay spastic ataxia1Nov 18, 2022
Hereditary breast ovarian cancer syndrome1Nov 18, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Nov 18, 2022
Intellectual disability, autosomal dominant 51Jan 30, 2023
KBG syndrome1Nov 18, 2022
LAMA2-related disorder1Nov 18, 2022
MFN2-related disorder1Nov 18, 2022
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities1Nov 18, 2022
POLR3A-related disorder2Nov 18, 2022
Phelan-McDermid syndrome1Nov 18, 2022
Porencephaly 21Jan 27, 2021
SCN8A-related disorder1Nov 18, 2022
Thrombophilia due to activated protein C resistance1Nov 18, 2022
USH2A-related disorder1Nov 18, 2022
von Willebrand disease type 2N1Nov 18, 2022

Testing in GTR

Disease nameNumber of tests
Amyotrophic lateral sclerosis1 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability2 tests
Ataxia-telangiectasia syndrome1 test
Ataxia-telangiectasia-like disorder1 test
Autosomal recessive ataxia due to ubiquinone deficiency1 test
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive spinocerebellar ataxia 101 test
Autosomal recessive spinocerebellar ataxia 111 test
Autosomal recessive spinocerebellar ataxia 131 test
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 201 test
Azorean disease2 tests
Becker muscular dystrophy2 tests
Behavioral variant of frontotemporal dementia1 test
Charcot-Marie-Tooth disease1 test
Charlevoix-Saguenay spastic ataxia2 tests
Congenital myasthenic syndrome1 test
Congenital myopathy1 test
Dementia, Lewy body, susceptibility to1 test
Dentatorubral-pallidoluysian atrophy2 tests
Developmental delay1 test
Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing1 test
Disorder of endocrine system1 test
Distal spinal muscular atrophy1 test
Drug metabolism or response1 test
Duchenne muscular dystrophy2 tests
Dyssynergia2 tests
Dystonic disorder1 test
Epilepsy1 test
Episodic ataxia type 11 test
Episodic ataxia type 21 test
Episodic ataxia type 51 test
Episodic ataxia type 61 test
FRAXE1 test
Fragile X syndrome2 tests
Fragile X-associated tremor/ataxia syndrome1 test
Friedreich ataxia2 tests
Frontotemporal dementia2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis2 tests
Hereditary ataxia1 test
Hereditary cancer5 tests
Hereditary cancer-predisposing syndrome2 tests
Hereditary cerebellar ataxia1 test
Hereditary dementia1 test
Hereditary disease21 tests
Hereditary liability to pressure palsies1 test
Hereditary motor and sensory neuropathy1 test
Hereditary spastic paraplegia1 test
Human disease1 test
Infantile onset spinocerebellar ataxia1 test
Intellectual developmental disorder with autism and dysmorphic facies1 test
Intellectual disability1 test
Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
Kennedy disease1 test
Lewy body dementia1 test
Marinesco-Sjögren syndrome1 test
Miscarriage1 test
Mitochondrial disease4 tests
Movement disorder2 tests
Muscular dystrophy2 tests
Myotonic dystrophy type 21 test
Pontoneocerebellar hypoplasia1 test
Riboflavin transporter deficiency1 test
Solid tumor1 test
Spastic ataxia 41 test
Spastic ataxia 51 test
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome1 test
Spinal muscular atrophy1 test
Spinocerebellar ataxia 431 test
Spinocerebellar ataxia 481 test
Spinocerebellar ataxia 72 tests
Spinocerebellar ataxia type 12 tests
Spinocerebellar ataxia type 102 tests
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 122 tests
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 172 tests
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 22 tests
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 231 test
Spinocerebellar ataxia type 261 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 291 test
Spinocerebellar ataxia type 341 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 362 tests
Spinocerebellar ataxia type 381 test
Spinocerebellar ataxia type 421 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 62 tests
Spinocerebellar ataxia type 82 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
Steinert myotonic dystrophy syndrome1 test
Ultrasound anomalies1 test
Walker-Warburg congenital muscular dystrophy1 test