ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2545G>A (p.Asp849Asn) (rs200893443)

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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 RCV000336109 SCV000411938 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400231 SCV000411939 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311307 SCV000411940 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347451 SCV000411941 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000721456 SCV000852526 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Invitae RCV000721456 SCV001008871 likely benign not provided 2018-09-19 criteria provided, single submitter clinical testing

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