ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1379-1_1556+1del

dbSNP: rs2137829787
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799313 SCV002043314 pathogenic Cardiomyopathy 2021-04-23 criteria provided, single submitter clinical testing

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