ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q15.3(chr15:43596729-43646649)x1
Germline
Classification
(1)
Benign
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 | |||
CATSPER2 | - | - |
GRCh38 GRCh37 |
47 | 107 | |
CKMT1B | - | - |
GRCh38 GRCh37 |
8 | 46 | |
LOC130056948 | - | - | - | GRCh38 | - | 18 |
LOC130056949 | - | - | - | GRCh38 | - | 24 |
STRC | - | - |
GRCh38 GRCh37 |
235 | 283 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Oct 14, 2010 | RCV000135866.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023