ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.*202C>T

gnomAD frequency: 0.00472  dbSNP: rs77988382
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571710 SCV001796229 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501924 SCV002809054 likely benign Arrhythmogenic right ventricular dysplasia 9 2022-02-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001571710 SCV005216606 likely benign not provided criteria provided, single submitter not provided

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