ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4971C>T (p.Asp1657=) (rs141107290)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000251168 SCV000533789 likely benign not specified 2017-07-31 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.
Illumina Clinical Services Laboratory,Illumina RCV000353072 SCV000412213 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398418 SCV000412214 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301244 SCV000412215 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367615 SCV000412216 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000546954 SCV000659949 benign RYR1-Related Disorders 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251168 SCV000304954 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000721570 SCV000852661 likely benign not provided 2017-07-17 criteria provided, single submitter clinical testing

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