ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.2532C>T (p.Cys844=)

gnomAD frequency: 0.00024  dbSNP: rs200699122
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001669843 SCV001890322 benign not provided 2019-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001669843 SCV002385351 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001669843 SCV004125536 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing KCNH1: BP4, BP7

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