ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q12.1(chr5:59698068-60053255)
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 | |
ELOVL7 | - | - |
GRCh38 GRCh37 |
20 | 50 | |
PART1 | - | - |
GRCh38 GRCh37 |
- | 19 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053496.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022