ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.2372G>A (p.Arg791His)

gnomAD frequency: 0.00008  dbSNP: rs139318016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001649751 SCV001865232 benign not provided 2021-01-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29707407)
Labcorp Genetics (formerly Invitae), Labcorp RCV001649751 SCV002356373 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001649751 SCV005408733 uncertain significance not provided 2024-01-08 criteria provided, single submitter clinical testing BS2

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