ClinVar Genomic variation as it relates to human health
NM_000260.4(MYO7A):c.3109-2A>G
Germline
Classification
(2)
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 | |||
MYO7A | - | - |
GRCh38 GRCh37 |
4266 | 4277 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 9, 2022 | RCV003062434.2 | |
Likely pathogenic (1) |
|
Mar 24, 2023 | RCV003155502.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024