ClinVar Miner

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

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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
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 Minicore myopathy 2018-02-09 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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 Central core myopathy 2018-02-09 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487936 SCV000575166 uncertain significance not provided 2019-11-01 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
Athena Diagnostics Inc RCV000259079 SCV000614910 uncertain significance not specified 2017-04-21 criteria provided, single submitter clinical testing
Invitae RCV001082546 SCV000659934 likely benign RYR1-Related Disorders 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000487936 SCV000852606 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
Mendelics RCV000148803 SCV001141059 benign Malignant hyperthermia, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148803 SCV000190541 likely benign Malignant hyperthermia, susceptibility to, 1 2014-06-01 no assertion criteria provided research

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