ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q21.3(chr7:95258682-96465856)x1
Germline
Classification
(1)
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 | |||
SEM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1 | 22 | |
C7orf76 | - | - | - |
GRCh38 GRCh37 |
- | 20 |
DYNC1I1 | - | - |
GRCh38 GRCh37 |
83 | 108 | |
SLC25A13 | - | - |
GRCh38 GRCh37 |
821 | 864 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 9, 2021 | RCV002472501.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022