ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3-13.2(chr17:3288124-3441645)x1
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 | |||
ASPA | - | - |
GRCh38 GRCh37 |
18 | 490 | |
OR1E1 | - | - | - |
GRCh38 GRCh37 |
18 | 71 |
OR1E2 | - | - | - |
GRCh38 GRCh37 |
19 | 72 |
OR3A3 | - | - | - |
GRCh38 GRCh37 |
21 | 74 |
SPATA22 | - | - |
GRCh38 GRCh37 |
21 | 591 | |
TRPV3 | - | - |
GRCh38 GRCh37 |
284 | 459 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 26, 2017 | RCV000849665.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022