ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5754C>T (p.Val1918=)

gnomAD frequency: 0.00009  dbSNP: rs397516545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036773 SCV000060428 likely benign not specified 2011-10-06 criteria provided, single submitter clinical testing Val1918Val in exon 38 of RYR2: This variant does not change an amino acid and do es not affect the splice consensus sequence. This makes a disease causing role v ery unlikely.
Invitae RCV002513432 SCV001728975 benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001804762 SCV002053446 likely benign Cardiomyopathy 2021-06-01 criteria provided, single submitter clinical testing

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