ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met) (rs201829896)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171767 SCV000055291 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036674 SCV000060329 likely benign not specified 2012-08-30 criteria provided, single submitter clinical testing Thr4281Met in exon 90 of RYR2: This variant is not expected to have clinical sig nificance because due to a lack of conservation across evolutionarily distant sp ecies and multiple mammals have a methionine (Met; this variant) at this positio n despite high nearby amino acid conservation. This variant has also been identi fied in 0.1% (4/3772) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs 201829896).
GeneDx RCV000036674 SCV000235022 likely benign not specified 2017-10-06 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.
Invitae RCV001081626 SCV000819954 likely benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000171767 SCV000987404 likely benign not provided criteria provided, single submitter clinical testing
Color RCV001188110 SCV001355082 likely benign Cardiomyopathy 2019-01-03 criteria provided, single submitter clinical testing

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