ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.4878C>T (p.Ala1626=) (rs369466056)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000721563 SCV000203453 uncertain significance not provided 2014-01-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000254093 SCV000304949 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382933 SCV000412205 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288457 SCV000412206 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348149 SCV000412207 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394118 SCV000412208 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000655710 SCV000777641 likely benign RYR1-Related Disorders 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721563 SCV000852651 likely benign not provided 2013-10-22 criteria provided, single submitter clinical testing

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