ClinVar Genomic variation as it relates to human health
NM_213720.3(CHCHD10):c.267C>T (p.Pro89=)
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 | |||
CHCHD10 | - | - |
GRCh38 GRCh38 GRCh37 |
235 | 347 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 24, 2024 | RCV003112703.4 | |
CHCHD10-related disorder
|
Likely benign (1) |
|
Dec 14, 2020 | RCV003900951.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024