ClinVar Genomic variation as it relates to human health
NM_031443.4(CCM2):c.926A>G (p.Lys309Arg)
Germline
Classification
(2)
Benign/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 | |||
CCM2 | - | - |
GRCh38 GRCh37 |
304 | 357 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 21, 2023 | RCV002581682.2 | |
CCM2-related disorder
|
Likely benign (1) |
|
Feb 21, 2019 | RCV003953898.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024