ClinVar Miner

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

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Total submissions: 6
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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 RCV000558412 SCV000379698 likely benign Atrial fibrillation, familial, 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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
Invitae RCV000558412 SCV000646997 benign Atrial fibrillation, familial, 7 2020-12-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000558412 SCV001159396 benign Atrial fibrillation, familial, 7 2020-07-06 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572727 SCV001797530 likely benign not provided no assertion criteria provided clinical testing

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