ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) (rs73933023)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000210000 SCV000265747 likely benign Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427695 SCV000511128 likely benign not provided 2016-09-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000243297 SCV000341640 benign not specified 2016-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000243297 SCV000521248 likely benign not specified 2017-07-27 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 RCV000262131 SCV000412967 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319074 SCV000412968 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366780 SCV000412969 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274979 SCV000412970 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527108 SCV000659819 benign RYR1-Related Disorders 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243297 SCV000304821 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000427695 SCV000852351 likely benign not provided 2018-03-26 criteria provided, single submitter clinical testing

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