ClinVar Genomic variation as it relates to human health
NM_005720.4(ARPC1B):c.1011C>A (p.Gly337=)
Germline
Classification
(3)
Likely benign
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 | |||
ARPC1B | - | - |
GRCh38 GRCh37 |
291 | 316 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (2) |
|
Aug 30, 2023 | RCV003100490.7 | |
Likely benign (1) |
|
Dec 11, 2023 | RCV003898799.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024