ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser)

gnomAD frequency: 0.00105  dbSNP: rs201238766
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542912 SCV000646999 likely benign Atrial fibrillation, familial, 7 2024-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000542912 SCV000894791 uncertain significance Atrial fibrillation, familial, 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001576731 SCV001803978 likely benign not provided 2019-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925669 SCV004745785 likely benign KCNA5-related disorder 2019-06-03 criteria provided, single submitter 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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