ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6078G>A (p.Glu2026=) (rs201310026)

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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 RCV000371454 SCV000412305 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267358 SCV000412306 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322444 SCV000412307 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377017 SCV000412308 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547971 SCV000659978 likely benign not provided 2018-10-29 criteria provided, single submitter clinical testing

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