ClinVar Genomic variation as it relates to human health
NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)
Germline
Classification
(2)
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 | |||
CHRNG | - | - |
GRCh38 GRCh37 |
328 | 519 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 16, 2021 | RCV002468822.3 | |
Likely pathogenic (1) |
|
Jul 14, 2023 | RCV003565569.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024