ClinVar Genomic variation as it relates to human health
NM_017617.5(NOTCH1):c.7377G>A (p.Gln2459=)
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 | |||
NOTCH1 | - | - |
GRCh38 GRCh37 |
3313 | 3556 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 7, 2022 | RCV003209053.1 | |
Likely benign (1) |
|
Jan 17, 2024 | RCV003586393.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024