Submissions for variant NM_001005242.3(PKP2):c.1556+9A>G

dbSNP: rs397517004

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038178	SCV000061845	likely benign	not specified	2012-09-12	criteria provided, single submitter	clinical testing	1688+9A>G in intron 7 of PKP2: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. 168 8+9A>G in intron 7 of PKP2 (allele frequency = n/a)
GeneDx	RCV000038178	SCV000729376	benign	not specified	2017-04-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869441	SCV001010869	benign	Arrhythmogenic right ventricular dysplasia 9	2023-12-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038178	SCV001918983	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727533	SCV001972263	likely benign	not provided		no assertion criteria provided	clinical testing