ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.994C>T (p.Leu332=)

gnomAD frequency: 0.00001  dbSNP: rs1956945387
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002168147 SCV002341202 likely benign Arrhythmogenic right ventricular dysplasia 9 2022-05-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533098 SCV004358904 likely benign Cardiomyopathy 2022-12-05 criteria provided, single submitter clinical testing

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