ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:352288-633755)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 | |||
BSG | - | - |
GRCh38 GRCh37 |
29 | 61 | |
C2CD4C | - | - |
GRCh38 GRCh37 |
46 | 78 | |
CDC34 | - | - |
GRCh38 GRCh37 |
15 | 48 | |
GZMM | - | - |
GRCh38 GRCh37 |
28 | 62 | |
HCN2 | - | - |
GRCh38 GRCh37 |
179 | 219 | |
MADCAM1 | - | - |
GRCh38 GRCh37 |
20 | 72 | |
ODF3L2 | - | - | - |
GRCh38 GRCh37 |
- | 11 |
POLRMT | - | - |
GRCh38 GRCh37 |
212 | 251 | |
SHC2 | - | - |
GRCh38 GRCh37 |
65 | 101 | |
THEG | - | - |
GRCh38 GRCh37 |
- | 11 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 13, 2019 | RCV001259375.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022