ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu)

gnomAD frequency: 0.00001  dbSNP: rs201940876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000210018 SCV000265702 uncertain significance Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001429538 SCV001632254 likely benign RYR1-related disorder 2024-12-24 criteria provided, single submitter clinical testing

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