ClinVar Genomic variation as it relates to human health
NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)
Germline
Classification
(3)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
LOC130060418 | - | - | - | GRCh38 | - | 75 |
MYO15A | - | - |
GRCh38 GRCh37 |
3060 | 3205 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 12, 2023 | RCV003317922.1 | |
Pathogenic/Likely pathogenic (2) |
|
Jul 7, 2023 | RCV003443200.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024