ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8079G>A (p.Pro2693=) (rs368063600)

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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 RCV000259500 SCV000412535 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319320 SCV000412536 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373972 SCV000412537 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284075 SCV000412538 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing

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