ClinVar Genomic variation as it relates to human health
NM_004082.5(DCTN1):c.2142T>C (p.Thr714=)
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 | |||
DCTN1 | - | - |
GRCh38 GRCh37 |
1280 | 1296 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 24, 2023 | RCV003800649.1 | |
DCTN1-related disorder
|
Likely benign (1) |
|
Dec 22, 2022 | RCV003909153.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024