ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) (rs146429605)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147429 SCV000194836 uncertain significance not provided 2014-04-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000147429 SCV000331484 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000375527 SCV000540246 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 2 papers describe as LB; ExAC: 0.5% (3/608) Latino chromosomes; ClinVar: 1 LB, 1 VUS; ML: Frequent for disease. 0.2% Eur
CeGaT Praxis fuer Humangenetik Tuebingen RCV000147429 SCV000575167 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Invitae RCV000655534 SCV000777465 likely benign RYR1-Related Disorders 2020-11-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000147429 SCV000852638 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765446 SCV000896737 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000148793 SCV001141060 benign Malignant hyperthermia, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000147429 SCV001715271 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148793 SCV000190531 likely benign Malignant hyperthermia, susceptibility to, 1 2014-06-01 no assertion criteria provided research

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