ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6555+8C>T (rs1759122)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036780 SCV000111254 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000036780 SCV000171421 benign not specified 2014-01-15 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 RCV000470383 SCV000554567 benign Catecholaminergic polymorphic ventricular tachycardia 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036780 SCV000060435 benign not specified 2012-10-25 criteria provided, single submitter clinical testing 6555+8C>T in intron 42 of RYR2: This variant is not expected to have clinical si gnificance because it is has been identified in 4.2% (8/192) of Luhya (African) chromosomes by the 1000 Genomes project (dbSNP rs1759122).

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