ClinVar Miner

Submissions for variant NM_172201.2(KCNE2):c.39C>T (p.Asp13=)

gnomAD frequency: 0.00006  dbSNP: rs556106127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617929 SCV000737547 likely benign Cardiovascular phenotype 2016-05-31 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 RCV002066943 SCV002402092 likely benign Long QT syndrome 6 2024-09-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240336 SCV005885473 likely benign not specified 2025-02-28 criteria provided, single submitter clinical testing

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