ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q23.2(chr10:88211498-88621031)x3
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 | |||
BMPR1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2323 | 2419 | |
LDB3 | - | - |
GRCh38 GRCh37 |
1202 | 1382 | |
OPN4 | - | - |
GRCh38 GRCh37 |
50 | 93 | |
WAPL | - | - |
GRCh38 GRCh37 |
56 | 98 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 6, 2023 | RCV001006343.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024