ClinVar Genomic variation as it relates to human health
NM_024408.4(NOTCH2):c.7338G>T (p.Gly2446=)
Germline
Classification
(2)
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 | |||
NOTCH2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1473 | 1498 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 18, 2024 | RCV002974908.2 | |
Likely benign (1) |
|
Jan 31, 2022 | RCV003898642.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024