ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8115C>T (p.Ala2705=)

gnomAD frequency: 0.00002  dbSNP: rs761249404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002193032 SCV002474973 likely benign RYR1-related disorder 2023-06-09 criteria provided, single submitter clinical testing
GeneDx RCV004774631 SCV005383531 uncertain significance not provided 2024-02-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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