ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.570C>T (p.Asn190=) (rs12720444)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533539 SCV000646995 benign Atrial fibrillation, familial, 7 2020-11-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000533539 SCV001267718 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000533539 SCV001472712 benign Atrial fibrillation, familial, 7 2020-02-24 criteria provided, single submitter clinical testing
GeneDx RCV001539333 SCV001757093 benign not provided 2018-10-23 criteria provided, single submitter clinical testing

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