ClinVar Genomic variation as it relates to human health
NM_001145418.2(TTC28):c.2779C>T (p.His927Tyr)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
TTC28 | - | - |
GRCh38 GRCh37 |
116 | 243 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
TTC28-related disorder
|
Likely benign (1) |
|
Mar 30, 2020 | RCV003934338.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024