ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)

gnomAD frequency: 0.00016  dbSNP: rs730880179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002484962 SCV002778912 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2021-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002484962 SCV003441069 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-05-22 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157408 SCV000207147 uncertain significance AV junctional rhythm; Ventricular tachycardia 2014-08-22 no assertion criteria provided clinical testing

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