ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6891+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV004587603 SCV005038492 pathogenic Centronuclear myopathy 2024-03-01 criteria provided, single submitter research PVS1+PM2+PM3+PP1

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