ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2943G>A (p.Thr981=) (rs2228069)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079138 SCV000111007 benign not specified 2014-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000079138 SCV000518757 benign not specified 2016-01-25 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.
Genetic Services Laboratory, University of Chicago RCV000079138 SCV000194820 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267837 SCV000411991 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322762 SCV000411992 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377343 SCV000411993 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264161 SCV000411994 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079138 SCV000269773 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Thr981Thr in exon 24 of RYR1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 44.0% (1938/4400) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2228069).
Leiden Muscular Dystrophy (RYR1) RCV000119602 SCV000154509 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079138 SCV000304901 benign not specified 2018-04-03 criteria provided, single submitter clinical testing

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