ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4160+7A>G (rs377465289)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036742 SCV000060397 likely benign not specified 2012-11-07 criteria provided, single submitter clinical testing 4160+7A>G in intron 31 of RYR2: This variant is not expected to have clinical si gnificance because it is not located within the invariant +/- 1, 2 region. It ha s been identified in 1/8184 European American chromosomes from a broad populatio n by the NHLBI Exome Sequencing Project ( 41 60+7A>G in intron 31 of RYR2 (allele frequency= 1/8184) **
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726257 SCV000343221 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
Invitae RCV000726257 SCV000760745 likely benign not provided 2018-11-21 criteria provided, single submitter clinical testing

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