ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11092-12_11092-11del

dbSNP: rs397516499
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Total submissions: 1
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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 RCV000036655 SCV000060310 likely benign not specified 2011-10-06 criteria provided, single submitter clinical testing 11092-12_11092-11delTT in intron 79 of RYR2: This variant is not expected to hav e clinical significance because it is located outside the conserved +/- 1, 2 reg ion of the splicing consensus sequence and as part of a polyT stretch.

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