ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.31(chr12:121253899-121570366)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 | |||
C12orf43 | - | - | - |
GRCh38 GRCh37 |
4 | 93 |
HNF1A | - | - |
GRCh38 GRCh37 |
910 | 1001 | |
OASL | - | - |
GRCh38 GRCh37 |
36 | 55 | |
SPPL3 | - | - |
GRCh38 GRCh37 |
8 | 30 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 4, 2020 | RCV001260172.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022