ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q14.3(chr12:65192310-65195529)x4
Germline
Classification
(1)
association
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 | |||
LEMD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
544 | 627 | |
LOC124629392 | - | - | - | GRCh38 | - | 3 |
LOC130008224 | - | - | - | GRCh38 | - | 56 |
LOC130008225 | - | - | - | GRCh38 | - | 21 |
LOC130008226 | - | - | - | GRCh38 | - | 3 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
association (1) |
|
- | RCV002510246.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023