ClinVar Genomic variation as it relates to human health
NM_000218.3(KCNQ1):c.1956C>T (p.Leu652=)
Germline
Classification
(3)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
KCNQ1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1717 | 2650 | |
KCNQ1-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 244 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 16, 2021 | RCV002421622.2 | |
Likely benign (1) |
|
Jun 26, 2023 | RCV003591957.1 | |
Likely benign (1) |
|
Jul 22, 2022 | RCV003097387.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024