ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7614+10C>G (rs2960323)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079167 SCV000111036 benign not specified 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000079167 SCV000514425 benign not specified 2016-01-22 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.
Genetic Services Laboratory, University of Chicago RCV000079167 SCV000194860 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293169 SCV000412455 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350105 SCV000412456 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374379 SCV000412457 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282148 SCV000412458 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079167 SCV000269783 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.7614+10C>G in intron 47 of RYR1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 33.2% (1463/4406) of African American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs2960323).
Leiden Muscular Dystrophy (RYR1) RCV000119723 SCV000154630 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079167 SCV000305010 benign not specified 2018-04-03 criteria provided, single submitter clinical testing

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