ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7801G>A (p.Asp2601Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795784 SCV005418013 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome criteria provided, single submitter clinical testing PS2_Supporting+PM2_Supporting+PP3

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