ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:3431968-3518264)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 | |||
SHPK | - | - |
GRCh38 GRCh37 |
153 | 270 | |
TRPV1 | - | - |
GRCh38 GRCh37 |
77 | 169 | |
TRPV3 | - | - |
GRCh38 GRCh37 |
275 | 449 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 21, 2019 | RCV001006861.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022