ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990362 SCV004806911 likely pathogenic Central core myopathy 2024-03-26 criteria provided, single submitter clinical testing

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