ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2979C>T (p.Asn993=) (rs2228070)

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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 RCV000079139 SCV000111008 benign not specified 2014-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000079139 SCV000518857 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 RCV000079139 SCV000194821 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319352 SCV000411995 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373768 SCV000411996 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279466 SCV000411997 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334468 SCV000411998 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079139 SCV000269774 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Asn993Asn 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 22.5% (1934/8596) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2228070).
Leiden Muscular Dystrophy (RYR1) RCV000119604 SCV000154511 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079139 SCV000304902 benign not specified 2018-03-29 criteria provided, single submitter clinical testing

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