ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13671C>G (p.Ser4557=) (rs35959206)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079130 SCV000110999 benign not specified 2013-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079130 SCV000194805 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079130 SCV000304827 benign not specified 2018-03-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391147 SCV000412984 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313093 SCV000412985 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369977 SCV000412986 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277839 SCV000412987 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079130 SCV000522810 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.
Invitae RCV000539934 SCV000659823 benign RYR1-Related Disorders 2017-08-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079130 SCV000711712 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ser4557Ser in exon 94 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 4.9% (420/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs35959206).
Leiden Muscular Dystrophy (RYR1) RCV000119482 SCV000154389 not provided not provided no assertion provided not provided

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