ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.13(chr12:113695889-113904780)x1
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 | |||
LHX5 | - | - |
GRCh38 GRCh37 |
23 | 31 | |
PLBD2 | - | - |
GRCh38 GRCh37 |
29 | 49 | |
SDS | - | - |
GRCh38 GRCh37 |
31 | 40 | |
SDSL | - | - | - |
GRCh38 GRCh37 |
28 | 36 |
SLC8B1 | - | - |
GRCh38 GRCh37 |
36 | 51 | |
TPCN1 | - | - |
GRCh38 GRCh37 |
52 | 61 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 30, 2018 | RCV000849800.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022