ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q12-13.11(chr12:46325342-46765019)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 | |||
SCAF11 | - | - |
GRCh38 GRCh37 |
86 | 100 | |
SLC38A1 | - | - |
GRCh38 GRCh37 |
16 | 28 | |
SLC38A2 | - | - |
GRCh38 GRCh37 |
23 | 35 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207312.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024