ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) (rs137933390)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000259079 SCV000614910 uncertain significance not specified 2017-04-21 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000148803 SCV000265704 benign Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
CSER_CC_NCGL; University of Washington Medical Center RCV000148803 SCV000190541 likely benign Malignant hyperthermia, susceptibility to, 1 2014-06-01 no assertion criteria provided research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487936 SCV000575166 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000487936 SCV000609980 uncertain significance not provided 2017-02-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487936 SCV000111015 uncertain significance not provided 2015-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000259079 SCV000234967 likely benign not specified 2018-02-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000315938 SCV000412121 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372946 SCV000412122 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294059 SCV000412123 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348954 SCV000412124 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537840 SCV000659934 likely benign RYR1-Related Disorders 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000487936 SCV000852606 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing

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