ClinVar Genomic variation as it relates to human health
Single allele
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 | |||
PDE4D | No evidence available | No evidence available |
GRCh38 GRCh37 |
538 | 565 | |
DEPDC1B | - | - |
GRCh38 GRCh37 |
41 | 61 | |
LOC123493321 | - | - | - | GRCh38 | - | 7 |
LOC123493322 | - | - | - | GRCh38 | - | 8 |
LOC129993942 | - | - | - | GRCh38 | - | 7 |
LOC129993943 | - | - | - | GRCh38 | - | 7 |
LOC129993944 | - | - | - | GRCh38 | - | 8 |
PART1 | - | - |
GRCh38 GRCh37 |
- | 19 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 30, 2018 | RCV000678011.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024