ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q31.3(chr4:154306552-154914180)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 | |||
MND1 | - | - |
GRCh38 GRCh37 |
18 | 48 | |
RNF175 | - | - | - |
GRCh38 GRCh37 |
23 | 55 |
SFRP2 | - | - |
GRCh38 GRCh37 |
21 | 52 | |
TLR2 | - | - |
GRCh38 GRCh37 |
72 | 103 | |
TMEM131L | - | - |
GRCh38 GRCh37 |
119 | 148 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 30, 2019 | RCV001259875.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022