Submissions for variant NM_001005242.3(PKP2):c.2168-11dup

dbSNP: rs746936605

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000624996	SCV000743447	benign	Arrhythmogenic right ventricular dysplasia 9	2017-05-23	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000624996	SCV000744693	likely benign	Arrhythmogenic right ventricular dysplasia 9	2015-09-21	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000624996	SCV001366674	likely benign	Arrhythmogenic right ventricular dysplasia 9	2019-05-23	criteria provided, single submitter	clinical testing	This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP4,BP6.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000624996	SCV002400171	benign	Arrhythmogenic right ventricular dysplasia 9	2024-01-30	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700262	SCV001923358	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724099	SCV001951104	likely benign	not provided		no assertion criteria provided	clinical testing