ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)

dbSNP: rs1568510406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785057 SCV000923612 pathogenic Central core myopathy 2019-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000785057 SCV004045838 pathogenic Central core myopathy 2022-10-27 criteria provided, single submitter clinical testing

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