ClinVar Genomic variation as it relates to human health
NM_001170629.2(CHD8):c.6931C>G (p.Leu2311Val)
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 | |||
CHD8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1237 | - | |
LOC126861888 | - | - | - | GRCh38 | - | 62 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 14, 2023 | RCV003667639.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024