ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) (rs139647387)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202653 SCV000257711 uncertain significance Malignant hypothermia 2015-02-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383337 SCV000412975 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283507 SCV000412976 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340821 SCV000412977 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394811 SCV000412978 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148801 SCV000190539 likely benign Congenital myopathy 2014-06-01 no assertion criteria provided research

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