ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q24.2(chr15:75385567-75674401)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 | |||
SIN3A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
524 | 565 | |
C15orf39 | - | - | - |
GRCh38 GRCh37 |
18 | 61 |
COMMD4 | - | - |
GRCh38 GRCh37 |
15 | 54 | |
GOLGA6C | - | - | - |
GRCh38 GRCh37 |
73 | 119 |
GOLGA6D | - | - | - |
GRCh38 GRCh37 |
36 | 78 |
MAN2C1 | - | - |
GRCh38 GRCh37 |
83 | 149 | |
NEIL1 | - | - |
GRCh38 GRCh37 |
37 | 101 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 16, 2019 | RCV001006711.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022