ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p15.32-15.31(chr4:16922258-17800667)
Germline
Classification
(1)
Likely benign
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 | |||
CLRN2 | - | - |
GRCh38 GRCh37 |
23 | 73 | |
FAM184B | - | - | - |
GRCh38 GRCh37 |
66 | 129 |
LAP3 | - | - |
GRCh38 GRCh37 |
11 | 79 | |
MED28 | - | - |
GRCh38 GRCh37 |
9 | 83 | |
QDPR | - | - |
GRCh38 GRCh37 |
304 | 425 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 15, 2015 | RCV000416792.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022