ClinVar Genomic variation as it relates to human health
NM_181426.2(CCDC39):c.2343T>C (p.Tyr781=)
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 | |||
CCDC39 | - | - |
GRCh38 GRCh37 |
634 | 848 | |
TTC14 | - | - | - |
GRCh38 GRCh37 |
47 | 260 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (2) |
|
Dec 23, 2023 | RCV003535321.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024