ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11761T>C (p.Tyr3921His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003153209 SCV003842104 uncertain significance Congenital multicore myopathy with external ophthalmoplegia 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.71; 3Cnet: 0.78). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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