ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q24.31-24.32(chr10:102958930-103525401)x3
Germline
Classification
(1)
Pathogenic
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 | |||
BTRC | No evidence available | No evidence available |
GRCh38 GRCh37 |
70 | 122 | |
FBXW4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
67 | 138 | |
LBX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
14 | 48 | |
POLL | No evidence available | No evidence available |
GRCh38 GRCh37 |
56 | 102 | |
DPCD | - | - |
GRCh38 GRCh37 |
12 | 62 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 6, 2022 | RCV003484814.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024