ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4160+10T>C

dbSNP: rs397516530
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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 RCV000036741 SCV000060396 likely benign not specified 2011-12-21 criteria provided, single submitter clinical testing 4160+10T>C in intron 31 of RYR2: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 416 0+10T>C in intron 31 of RYR2 (allele frequency = n/a)
Invitae RCV002513419 SCV002344072 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-04-28 criteria provided, single submitter clinical testing

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