ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)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 | |||
DSP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4741 | 4955 | |
BLOC1S5 | - | - |
GRCh38 GRCh37 |
2 | 58 | |
BMP6 | - | - |
GRCh38 GRCh37 |
73 | 107 | |
CAGE1 | - | - |
GRCh38 GRCh37 |
44 | 90 | |
LY86 | - | - |
GRCh38 GRCh37 |
11 | 48 | |
RIOK1 | - | - |
GRCh38 GRCh37 |
40 | 77 | |
RREB1 | - | - |
GRCh38 GRCh37 |
325 | 372 | |
SNRNP48 | - | - | - |
GRCh38 GRCh37 |
22 | 57 |
SSR1 | - | - |
GRCh38 GRCh37 |
7 | 52 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 15, 2020 | RCV001259377.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022