ClinVar Genomic variation as it relates to human health
NC_000003.12:g.30872874_31319912dup
Germline
Classification
(1)
Likely benign
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 | |||
GADL1 | - | - |
GRCh38 GRCh37 |
39 | 58 | |
LOC126806641 | - | - | - | GRCh38 | - | 4 |
LOC129389044 | - | - | - | GRCh38 | - | 4 |
LOC129936400 | - | - | - | GRCh38 | - | 4 |
LOC129936401 | - | - | - | GRCh38 | - | 4 |
LOC129936402 | - | - | - | GRCh38 | - | 4 |
MIR466 | - | - | - | GRCh38 | - | 4 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 1, 2018 | RCV000754411.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023