ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10602A>G (p.Leu3534=)

dbSNP: rs397516498
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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 RCV000036651 SCV000060306 likely benign not specified 2012-12-06 criteria provided, single submitter clinical testing Leu3534Leu in exon 74 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 wit hin the splice consensus sequence. Leu3534Leu in exon 74 of RYR2 (allele frequ ency = n/a)

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