ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13317C>T (p.Ala4439=) (rs113579185)

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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 RCV000079128 SCV000110997 benign not specified 2016-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000079128 SCV000522809 benign not specified 2016-02-29 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 RCV000079128 SCV000194802 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372127 SCV000412935 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282600 SCV000412936 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337577 SCV000412937 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398661 SCV000412938 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079128 SCV000711711 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala4439Ala in exon 91 of RYR1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 9.7% (18/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http:// www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs113579185).
Leiden Muscular Dystrophy (RYR1) RCV000119476 SCV000154383 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079128 SCV000304817 benign not specified 2018-03-29 criteria provided, single submitter clinical testing

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