ClinVar Genomic variation as it relates to human health
NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
LOC126860794 | - | - | - | GRCh38 | - | 156 |
NOTCH1 | - | - |
GRCh38 GRCh37 |
3370 | 3614 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 15, 2023 | RCV003093417.2 | |
Uncertain significance (1) |
|
Dec 6, 2022 | RCV003161739.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024