ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.385-14T>C (rs372287944)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154808 SCV000234982 benign not specified 2014-07-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154808 SCV000204488 likely benign not specified 2014-06-16 criteria provided, single submitter clinical testing 385-14T>C in intron 7 of RYR2: This variant is not expected to have clinical sig nificance because a T>C change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. It has been id entified in identified in 1/8280 European American chromosomes by the NHLBI Exom e Sequencing Project (; dbSNP rs372287944).

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