ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_68197023)_(68458455_?)dup
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 | |||
LRP5 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2042 | 2059 | |
GAL | - | - |
GRCh38 GRCh37 |
58 | 72 | |
PPP6R3 | - | - |
GRCh38 GRCh37 |
38 | 55 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 12, 2022 | RCV003107645.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023