ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8118T>C (p.Ile2706=) (rs2960340)

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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 RCV000079175 SCV000111044 benign not specified 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000079175 SCV000519602 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 RCV000079175 SCV000194869 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405618 SCV000412543 benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310752 SCV000412544 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346944 SCV000412545 benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406007 SCV000412546 benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079175 SCV000269788 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ile2706Ile in exon 51 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 45.8% (2016/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2960340).
Leiden Muscular Dystrophy (RYR1) RCV000119738 SCV000154645 not provided not provided no assertion provided not provided
PreventionGenetics RCV000079175 SCV000305040 benign not specified 2018-04-03 criteria provided, single submitter clinical testing

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