ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.387C>T (p.Phe129=)

gnomAD frequency: 0.00001  dbSNP: rs1402832714
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445811 SCV001648848 likely benign Andersen Tawil syndrome; Short QT syndrome type 3 2020-07-20 criteria provided, single submitter clinical testing

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