ClinVar Genomic variation as it relates to human health
NC_000021.8:g.(?_35742778)_(35821932_?)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 | |||
KCNE1 | - | - |
GRCh38 GRCh37 |
333 | 410 | |
KCNE2 | - | - |
GRCh38 GRCh37 |
1 | 217 | |
SMIM11 | - | - | - |
GRCh38 GRCh37 |
- | 76 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 3, 2022 | RCV001943442.4 | |
Uncertain significance (1) |
|
Nov 1, 2022 | RCV003120752.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023