ClinVar Genomic variation as it relates to human health
NM_001614.5(ACTG1):c.786C>G (p.Phe262Leu)
Germline
Classification
(2)
Uncertain significance
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 | |||
ACTG1 | - | - |
GRCh38 GRCh38 GRCh37 |
535 | 585 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 18, 2021 | RCV003141177.3 | |
Uncertain significance (1) |
|
Mar 25, 2024 | RCV003988888.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024