ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q31.32(chr7:122963176-123347717)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ASB15 | - | - |
GRCh38 GRCh37 |
25 | 65 | |
IQUB | - | - | - |
GRCh38 GRCh37 |
40 | 69 |
LMOD2 | - | - |
GRCh38 GRCh37 |
46 | 74 | |
NDUFA5 | - | - |
GRCh38 GRCh37 |
2 | 32 | |
WASL | - | - |
GRCh38 GRCh37 |
16 | 44 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 9, 2019 | RCV001258969.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022