ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6651C>T (p.Gly2217=) (rs371006370)

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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 RCV000368727 SCV000412362 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273945 SCV000412363 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319895 SCV000412364 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355962 SCV000412365 uncertain significance Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000868600 SCV001009950 likely benign RYR1-Related Disorders 2019-12-31 criteria provided, single submitter clinical testing

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