ClinVar Miner

Submissions for variant NM_172201.2(KCNE2):c.147C>T (p.Val49=)

gnomAD frequency: 0.00001  dbSNP: rs1485672832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002397105 SCV002697101 likely benign Cardiovascular phenotype 2020-11-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV005097542 SCV005816721 likely benign Long QT syndrome 6 2024-02-17 criteria provided, single submitter clinical testing

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