ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1465_1468del (p.Ile489fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004776553 SCV005387929 pathogenic Arrhythmogenic right ventricular dysplasia 9 2024-06-20 criteria provided, single submitter clinical testing

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