Submissions for variant NM_001035.3(RYR2):c.8209-4T>C

gnomAD frequency: 0.00003  dbSNP: rs371966353

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000252027	SCV000318934	uncertain significance	Cardiovascular phenotype	2021-01-11	criteria provided, single submitter	clinical testing	The c.8209-4T>C intronic variant results from a T to C substitution 4 nucleotides upstream from coding exon 55 in the RYR2 gene. This nucleotide position is not 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	RCV000769798	SCV000901224	uncertain significance	Cardiomyopathy	2015-11-09	criteria provided, single submitter	clinical testing
Invitae	RCV002515053	SCV001631459	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2022-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000929242	SCV001892299	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769798	SCV004360686	likely benign	Cardiomyopathy	2022-11-21	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000157461	SCV000207205	uncertain significance	Primary dilated cardiomyopathy	2014-09-29	no assertion criteria provided	clinical testing