ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p24.3(chr6:7229084-7904034)x3
Germline
Classification
(1)
Likely benign
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 | |||
DSP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4723 | 4936 | |
BMP6 | - | - |
GRCh38 GRCh37 |
72 | 106 | |
CAGE1 | - | - |
GRCh38 GRCh37 |
44 | 90 | |
RIOK1 | - | - |
GRCh38 GRCh37 |
40 | 77 | |
RREB1 | - | - |
GRCh38 GRCh37 |
323 | 370 | |
SNRNP48 | - | - | - |
GRCh38 GRCh37 |
22 | 57 |
SSR1 | - | - |
GRCh38 GRCh37 |
7 | 52 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Aug 22, 2014 | RCV000511519.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024