ClinVar Genomic variation as it relates to human health
NM_001005273.3(CHD3):c.3805G>C (p.Asp1269His)
Germline
Classification
(1)
Uncertain significance
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 | |||
CHD3 | - | - |
GRCh38 GRCh37 |
388 | 468 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CHD3-related disorder
|
Uncertain significance (1) |
|
Oct 25, 2023 | RCV003969773.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024