ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
CRX | - | - |
GRCh38 GRCh37 |
515 | 538 | |
LINC01595 | - | - | - | GRCh38 | - | 5 |
SULT2A1 | - | - |
GRCh38 GRCh37 |
10 | 31 | |
TPRX1 | - | - |
GRCh38 GRCh37 |
46 | 65 | |
TPRX2 | - | - | GRCh38 | - | 6 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 24, 2023 | RCV003327687.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024