Submissions for variant NM_001035.3(RYR2):c.4160+7A>G

gnomAD frequency: 0.00004  dbSNP: rs377465289

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036742	SCV000060397	likely benign	not specified	2012-11-07	criteria provided, single submitter	clinical testing	4160+7A>G in intron 31 of RYR2: This variant is not expected to have clinical si gnificance because it is not located within the invariant +/- 1, 2 region. It ha s been identified in 1/8184 European American chromosomes from a broad populatio n by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). 41 60+7A>G in intron 31 of RYR2 (allele frequency= 1/8184) **
Eurofins Ntd Llc (ga)	RCV000726257	SCV000343221	uncertain significance	not provided	2016-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002513420	SCV001696804	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-10-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000726257	SCV001742096	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000726257	SCV001928723	likely benign	not provided		no assertion criteria provided	clinical testing