ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q21.3(chr7:95931567-97254397)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
DLX5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
41 | 73 | |
DLX6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 104 | |
SEM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 25 | |
C7orf76 | - | - | - |
GRCh38 GRCh37 |
- | 21 |
SDHAF3 | - | - |
GRCh38 GRCh37 |
9 | 30 | |
SLC25A13 | - | - |
GRCh38 GRCh37 |
835 | 881 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 8, 2020 | RCV001251054.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023