ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.1(chr2:233890063-234101264)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 | |||
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
183 | 230 | |
LOC121009631 | - | - | - | GRCh38 | - | 16 |
LOC122861317 | - | - | - | GRCh38 | - | 16 |
LOC129935901 | - | - | - | GRCh38 | - | 16 |
TRPM8 | - | - |
GRCh38 GRCh37 |
71 | 117 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Apr 9, 2013 | RCV000143306.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024