ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.11625G>A (p.Ala3875=) (rs61729397)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147406 SCV000528517 benign not specified 2016-07-27 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 RCV000147406 SCV000194790 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318070 SCV000412825 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374897 SCV000412826 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278134 SCV000412827 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316991 SCV000412828 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000528481 SCV000659773 benign RYR1-Related Disorders 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000147406 SCV000304790 benign not specified 2018-03-26 criteria provided, single submitter clinical testing

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