ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.573C>T (p.Asp191=) (rs892054)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147434 SCV000194844 benign not specified 2014-02-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147434 SCV000203445 benign not specified 2014-03-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147434 SCV000304967 benign not specified 2018-03-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286789 SCV000411834 likely benign Minicore myopathy 2018-08-30 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 RCV000341801 SCV000411835 likely benign Malignant hyperthermia, susceptibility to, 1 2018-08-30 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 RCV000391546 SCV000411836 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306757 SCV000411837 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001084309 SCV000659973 benign RYR1-Related Disorders 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000147434 SCV000729982 benign not specified 2017-06-16 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) RCV000119642 SCV000154549 not provided not provided no assertion provided not provided

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