ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.1-21.3(chr7:6864233-8137002)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 | |||
C1GALT1 | - | - |
GRCh38 GRCh37 |
27 | 69 | |
CCZ1B | - | - | - |
GRCh38 GRCh37 |
26 | 63 |
COL28A1 | - | - |
GRCh38 GRCh37 |
76 | 118 | |
GLCCI1 | - | - |
GRCh38 GRCh37 |
24 | 80 | |
MIOS | - | - |
GRCh38 GRCh37 |
41 | 79 | |
RPA3 | - | - |
GRCh38 GRCh37 |
5 | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 24, 2019 | RCV001005905.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022