ClinVar Genomic variation as it relates to human health
NM_013964.5(NRG1):c.1847G>T (p.Gly616Val)
Germline
Classification
(1)
Benign
criteria provided, single submitter
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 | |||
NRG1 | - | - |
GRCh38 GRCh37 |
51 | 131 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
NRG1-related disorder
|
Benign (1) |
|
Feb 26, 2019 | RCV003979793.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024