ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6793-4G>A

dbSNP: rs568936247
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003061777 SCV002455506 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363671 SCV002666270 uncertain significance Cardiovascular phenotype 2019-09-05 criteria provided, single submitter clinical testing The c.6793-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 45 in the RYR2 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004005473 SCV004842028 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-13 criteria provided, single submitter clinical testing

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