ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1379-1967_1379-1966del

gnomAD frequency: 0.00004  dbSNP: rs1491439367
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861228 SCV001001485 likely benign Arrhythmogenic right ventricular dysplasia 9 2023-01-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150362 SCV003838699 uncertain significance Cardiomyopathy 2021-12-02 criteria provided, single submitter clinical testing

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