ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1421C>T (p.Ala474Val) (rs373399921)

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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 RCV000172087 SCV000051033 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001087034 SCV000261922 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001087034 SCV001273071 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 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.
Color RCV001189437 SCV001356728 likely benign Cardiomyopathy 2019-11-13 criteria provided, single submitter clinical testing

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