ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_109336043)_(109579739_?)dup
Germline
Classification
(2)
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 | |||
CCDC138 | - | - | - |
GRCh38 GRCh37 |
- | 93 |
EDAR | - | - |
GRCh38 GRCh37 |
1 | 375 | |
LOC126806303 | - | - | - | GRCh38 | - | 18 |
LOC129388897 | - | - | - | GRCh38 | - | 17 |
LOC129388898 | - | - | - | GRCh38 | - | 17 |
LOC129934529 | - | - | - | GRCh38 | - | 20 |
RANBP2 | - | - |
GRCh38 GRCh37 |
987 | 1548 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 7, 2018 | RCV000811356.1 | |
Uncertain significance (1) |
|
Sep 16, 2021 | RCV001374279.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023