ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7614+1G>A

dbSNP: rs2145606794
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Department, Peking University First Hospital RCV001829283 SCV002097038 pathogenic RYR1-related myopathy 2022-02-08 criteria provided, single submitter provider interpretation

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