ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q21.3(chr7:94129826-94844077)x1
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
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 | |||
SGCE | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 651 | |
PEG10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
17 | 35 | |
PPP1R9A | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 117 | |
CASD1 | - | - |
GRCh38 GRCh37 |
28 | 615 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 31, 2017 | RCV000487993.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 24, 2022