ClinVar Genomic variation as it relates to human health
NM_016239.4(MYO15A):c.1323G>C (p.Ala441=)
Germline
Classification
(2)
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 | |||
MYO15A | - | - |
GRCh38 GRCh37 |
3113 | 3258 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 5, 2023 | RCV003833950.2 | |
MYO15A-related disorder
|
Likely benign (1) |
|
Jan 28, 2021 | RCV003892228.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024