ClinVar Genomic variation as it relates to human health
NM_001737.5(C9):c.123A>C (p.Ile41=)
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 | |||
C9 | - | - |
GRCh38 GRCh37 |
314 | 339 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 2, 2024 | RCV003120041.4 | |
C9-related disorder
|
Likely benign (1) |
|
Apr 13, 2021 | RCV003906652.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024