ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.21-24.22(chr12:116416809-117740952)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 | |||
MED13L | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1287 | 1306 | |
FBXO21 | - | - |
GRCh38 GRCh37 |
25 | 43 | |
FBXW8 | - | - |
GRCh38 GRCh37 |
29 | 64 | |
HRK | - | - |
GRCh38 GRCh37 |
7 | 26 | |
MAP1LC3B2 | - | - | - |
GRCh38 GRCh37 |
9 | 26 |
NOS1 | - | - |
GRCh38 GRCh37 |
135 | 158 | |
RNFT2 | - | - | - |
GRCh38 GRCh37 |
25 | 42 |
SPRING1 | - | - | - |
GRCh38 GRCh37 |
1 | 18 |
TESC | - | - |
GRCh38 GRCh37 |
22 | 40 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 7, 2018 | RCV001006533.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022