ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) (rs1057518970)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415190 SCV000493040 likely pathogenic Congenital muscular dystrophy; Muscular Diseases; Respiratory insufficiency 2014-05-21 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000785058 SCV000923613 uncertain significance not specified 2019-01-01 criteria provided, single submitter clinical testing

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