ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3735G>A (p.Arg1245=) (rs190884873)

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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, Partners HealthCare Personalized Medicine RCV000151758 SCV000200153 likely benign not specified 2014-04-04 criteria provided, single submitter clinical testing Arg1245Arg in exon 30 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. It has been identified in 0.8% (1/132) of Mex ican chromosomes from a broad population by the 1000 Genomes Project (http://www; dbSNP rs190884873).
Integrated Genetics/Laboratory Corporation of America RCV000151758 SCV000918172 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing

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