ClinVar Genomic variation as it relates to human health
NM_001289104.2(PRKCSH):c.-78+74G>A
Germline
Classification
(1)
Likely benign
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 | |||
ODAD3 | - | - |
GRCh38 GRCh37 |
327 | 356 | |
PRKCSH | - | - |
GRCh38 GRCh37 |
315 | 353 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ODAD3-related disorder
|
Likely benign (1) |
|
Dec 29, 2023 | RCV003924021.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024