ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6799A>G (p.Met2267Val) (rs886054393)

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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 RCV000311363 SCV000412378 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338271 SCV000412379 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395277 SCV000412380 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298318 SCV000412381 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing

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