ClinVar Genomic variation as it relates to human health
NM_000218.3(KCNQ1):c.1393+22149A>T
Germline
Classification
(2)
Benign/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 |
1702 | 2589 | |
KCNQ1OT1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1 | 653 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Feb 1, 2024 | RCV002511654.9 | |
Likely benign (1) |
|
May 23, 2022 | RCV003961058.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024