ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.-116C>T

gnomAD frequency: 0.48955  dbSNP: rs187291890
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386528 SCV000483377 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256906 SCV001433412 benign not specified 2010-08-09 criteria provided, single submitter clinical testing
GeneDx RCV001643126 SCV001858717 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001643126 SCV005216632 likely benign not provided criteria provided, single submitter not provided

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