ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6600G>A (p.Ala2200=) (rs375640581)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000403740 SCV000412354 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283795 SCV000412355 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348050 SCV000412356 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397482 SCV000412357 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000546320 SCV000659998 likely benign RYR1-Related Disorders 2017-08-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721618 SCV000852720 likely benign not provided 2016-05-02 criteria provided, single submitter clinical testing

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