ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1790G>A (p.Arg597Gln)

gnomAD frequency: 0.00033  dbSNP: rs201342234
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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 RCV000646128 SCV000767885 likely benign Atrial fibrillation, familial, 7 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001584489 SCV001820749 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar (ClinVar Variant ID# 537308)
CeGaT Center for Human Genetics Tuebingen RCV001584489 SCV004701846 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing

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