ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.2327C>G (p.Ala776Gly)

gnomAD frequency: 0.00020  dbSNP: rs138931464
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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 RCV001456381 SCV001660159 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
GeneDx RCV001456381 SCV001910506 benign not provided 2018-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001456381 SCV004125540 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing KCNH1: PP2, BS1

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