ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6353G>C (p.Arg2118Pro) (rs201649680)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000393407 SCV000412337 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303533 SCV000412338 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358367 SCV000412339 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398295 SCV000412340 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing

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