ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)

gnomAD frequency: 0.00003  dbSNP: rs769443054
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296149 SCV000412329 uncertain significance Multiminicore myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351067 SCV000412330 uncertain significance Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386877 SCV000412331 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292503 SCV000412332 uncertain significance Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000655691 SCV000777622 likely benign RYR1-related disorder 2024-11-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804985 SCV005425039 likely benign Malignant hyperthermia, susceptibility to, 1 2024-09-17 criteria provided, single submitter clinical testing

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