ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.13(chr12:113622666-113848323)x3
Germline
Classification
(1)
Likely benign
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 | |||
DDX54 | - | - |
GRCh38 GRCh37 |
88 | 114 | |
IQCD | - | - | - |
GRCh38 GRCh37 |
19 | 29 |
PLBD2 | - | - | - |
GRCh38 GRCh37 |
23 | 40 |
RITA1 | - | - | - |
GRCh38 GRCh37 |
11 | 19 |
SDS | - | - |
GRCh38 GRCh37 |
30 | 39 | |
SLC8B1 | - | - |
GRCh38 GRCh37 |
33 | 46 | |
TPCN1 | - | - |
GRCh38 GRCh37 |
47 | 56 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 17, 2020 | RCV001836571.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022