ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8190T>C (p.Asp2730=) (rs2915951)

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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 RCV000079176 SCV000111045 benign not specified 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000079176 SCV000519603 benign not specified 2016-01-25 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 RCV000079176 SCV000194870 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311779 SCV000412547 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371398 SCV000412548 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276810 SCV000412549 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299073 SCV000412550 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079176 SCV000269789 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Asp2730Asp in exon 51 of RYR1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 45.8% (2020/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2915951).
Leiden Muscular Dystrophy (RYR1) RCV000119741 SCV000154648 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079176 SCV000305041 benign not specified 2018-04-03 criteria provided, single submitter clinical testing

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