ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q14-15.1(chr15:39874092-40492503)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 | |||
BMF | - | - |
GRCh38 GRCh37 |
11 | 25 | |
BUB1B | - | - |
GRCh38 GRCh37 |
1544 | 1832 | |
EIF2AK4 | - | - |
GRCh38 GRCh37 |
395 | 429 | |
FSIP1 | - | - |
GRCh38 GRCh37 |
32 | 60 | |
GPR176 | - | - |
GRCh38 GRCh37 |
33 | 47 | |
SRP14 | - | - |
GRCh38 GRCh37 |
7 | 22 | |
THBS1 | - | - |
GRCh38 GRCh37 |
73 | 99 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207148.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024