ClinVar Genomic variation as it relates to human health
NM_005159.5(ACTC1):c.306G>A (p.Glu102=)
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 | |||
ACTC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3 | 796 | |
GJD2-DT | - | - | - | GRCh38 | - | 776 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 6, 2023 | RCV004016675.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024