ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11039+13G>T

gnomAD frequency: 0.00001  dbSNP: rs727504882
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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 RCV000156255 SCV000205971 likely benign not specified 2013-12-05 criteria provided, single submitter clinical testing 11039+13G>T in intron 78 of RYR2: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. 1 1039+13G>T in intron 78 of RYR2 (allele frequency = n/a)
Invitae RCV002515014 SCV002392858 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-05-30 criteria provided, single submitter clinical testing

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