ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14283G>A (p.Pro4761=) (rs201157293)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000345135 SCV000413020 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401414 SCV000413021 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310165 SCV000413022 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339321 SCV000413023 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556274 SCV000659844 likely benign RYR1-Related Disorders 2017-07-17 criteria provided, single submitter clinical testing

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