ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314527 SCV004014009 likely pathogenic Congenital multicore myopathy with external ophthalmoplegia 2023-04-26 criteria provided, single submitter clinical testing PM2, PM3, PP3

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