Submissions for variant NM_001005242.3(PKP2):c.1379-5T>C

gnomAD frequency: 0.00001  dbSNP: rs189036647

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703710	SCV000522435	likely benign	not provided	2019-09-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000694339	SCV000822779	likely benign	Arrhythmogenic right ventricular dysplasia 9	2024-01-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001176095	SCV001339933	likely benign	Cardiomyopathy	2018-11-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392982	SCV002708532	uncertain significance	Cardiovascular phenotype	2021-09-14	criteria provided, single submitter	clinical testing	The c.1511-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 7 in the PKP2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001176095	SCV003838848	uncertain significance	Cardiomyopathy	2021-08-18	criteria provided, single submitter	clinical testing