ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.207C>G (p.Leu69=)

dbSNP: rs1007358932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874391 SCV001016561 likely benign Andersen Tawil syndrome; Short QT syndrome type 3 2023-11-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323751 SCV004028817 likely benign not specified 2023-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003344109 SCV004051368 likely benign Cardiovascular phenotype 2023-08-13 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.

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