ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4125T>C (p.Asp1375=)

dbSNP: rs397516529
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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 RCV000036740 SCV000060395 likely benign not specified 2012-07-06 criteria provided, single submitter clinical testing Asp1375Asp in exon 31 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. Asp1375Asp in exon 31 of RYR2 (allele freque ncy = n/a)
Color Diagnostics, LLC DBA Color Health RCV003531925 SCV004360586 likely benign Cardiomyopathy 2021-11-19 criteria provided, single submitter clinical testing

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