ClinVar Genomic variation as it relates to human health
NM_001377299.1(NDUFS2):c.660C>T (p.Ala220=)
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 | |||
NDUFS2 | - | - |
GRCh38 GRCh37 |
203 | 266 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 12, 2024 | RCV002927620.2 | |
NDUFS2-related disorder
|
Likely benign (1) |
|
Nov 6, 2019 | RCV003936384.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024