ClinVar Genomic variation as it relates to human health
NM_001376.5(DYNC1H1):c.8363C>T (p.Thr2788Ile)
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
DYNC1H1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
4482 | 4720 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
DYNC1H1-related disorder
|
Uncertain significance (1) |
|
Apr 22, 2024 | RCV004747516.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 30, 2024