ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q21.31-21.32(chr12:85722164-86332192)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 | |||
LOC126861589 | - | - | - | GRCh38 | - | 5 |
LOC130008342 | - | - | - | GRCh38 | - | 3 |
MGAT4C | - | - |
GRCh38 GRCh37 |
27 | 47 | |
NTS | - | - |
GRCh38 GRCh37 |
8 | 23 | |
RASSF9 | - | - |
GRCh38 GRCh37 |
34 | 50 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Aug 22, 2014 | RCV000143492.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024