ClinVar Genomic variation as it relates to human health
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
Germline
Classification
(3)
Pathogenic/Likely pathogenic
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 | |||
NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
13558 | 13948 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 16, 2022 | RCV002369445.1 | |
Likely pathogenic (1) |
|
Apr 13, 2023 | RCV003471356.1 | |
Pathogenic (1) |
|
Dec 26, 2023 | RCV003495289.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024