ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1719G>C (p.Gln573His)

dbSNP: rs786205476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003992206 SCV004809433 likely pathogenic Arrhythmogenic right ventricular dysplasia 9 2024-04-04 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171211 SCV000221408 likely pathogenic not provided flagged submission research

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