ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q24.1(chr15:74315568-74654641)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
CCDC33 | - | - |
GRCh38 GRCh38 GRCh37 |
58 | 115 | |
CYP11A1 | - | - |
GRCh38 GRCh38 GRCh37 |
312 | 354 | |
GOLGA6A | - | - |
GRCh38 GRCh37 |
38 | 76 | |
ISLR | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 76 | |
ISLR2 | - | - |
GRCh38 GRCh37 |
29 | 70 | |
PML | - | - |
GRCh38 GRCh37 |
62 | 97 | |
STRA6 | - | - |
GRCh38 GRCh38 GRCh37 |
249 | 316 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 27, 2018 | RCV000683705.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023