ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4329G>A (p.Val1443=)

gnomAD frequency: 0.00002  dbSNP: rs397516531
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Total submissions: 2
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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 RCV000036744 SCV000060399 likely benign not specified 2011-12-09 criteria provided, single submitter clinical testing Val1443Val in exon 33 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction.
Invitae RCV003103722 SCV001415217 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-04 criteria provided, single submitter clinical testing

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