ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7222-12dup (rs145140335)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036788 SCV000235007 benign not specified 2014-04-30 criteria provided, single submitter clinical testing The variant is found in CARDIOMYOPATHY panel(s).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036788 SCV000060443 likely benign not specified 2012-08-14 criteria provided, single submitter clinical testing 7222-12_7222-11insT in intron 47 of RYR2: This variant is not expected to have c linical significance because it is located outside the conserved splicing consen sus sequence.

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