ClinVar Genomic variation as it relates to human health
NM_001163735.2(MYO19):c.2862A>G (p.Glu954=)
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 | |||
MYO19 | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 453 | |
ZNHIT3 | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 132 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 1, 2022 | RCV003428243.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024