ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.165+1G>T

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Total submissions: 2
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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 RCV004556986 SCV005045777 likely pathogenic Congenital multicore myopathy with external ophthalmoplegia 2023-11-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004805653 SCV005430432 uncertain significance Malignant hyperthermia, susceptibility to, 1 2024-03-05 criteria provided, single submitter clinical testing

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