ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1291G>A (p.Ala431Thr)

dbSNP: rs768357333
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258221 SCV001435117 uncertain significance Malignant hyperthermia, susceptibility to, 1 criteria provided, single submitter clinical testing

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