ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) (rs12720442)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171806 SCV000050820 benign not specified 2013-06-24 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000386305 SCV000379698 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000558412 SCV000646997 benign Atrial fibrillation, familial, 7 2017-07-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000171806 SCV000539415 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency

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