ClinVar Genomic variation as it relates to human health
NM_016239.4(MYO15A):c.9518-2A>G
Germline
Classification
(2)
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 | |||
MYO15A | - | - |
GRCh38 GRCh37 |
3013 | 3162 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 23, 2023 | RCV003153018.1 | |
Pathogenic (1) |
|
Dec 18, 2023 | RCV003778913.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024