ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.10687-7C>T (rs2960354)

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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 RCV000079118 SCV000110987 benign not specified 2013-05-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079118 SCV000194782 likely benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079118 SCV000269769 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 10687-7C>T in intron 72 of RYR1: This variant is not expected to have clinical s ignificance because it has been identified in 26.2% (1155/4406) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs2960354).
PreventionGenetics,PreventionGenetics RCV000079118 SCV000304759 benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308788 SCV000412756 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363502 SCV000412757 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268917 SCV000412758 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324000 SCV000412759 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079118 SCV000522745 benign not specified 2016-02-29 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.
Leiden Muscular Dystrophy (RYR1) RCV000119416 SCV000154323 not provided not provided no assertion provided not provided

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