ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.2604G>A (p.Ala868=)

gnomAD frequency: 0.00217  dbSNP: rs1135318
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878298 SCV001021179 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000878298 SCV001836397 benign not provided 2019-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000878298 SCV004125535 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing KCNH1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000878298 SCV005286933 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004549996 SCV004729556 likely benign KCNH1-related disorder 2019-06-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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