ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9612G>A (p.Ala3204=)

gnomAD frequency: 0.00003  dbSNP: rs748122408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001428658 SCV001631360 likely benign RYR1-related disorder 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000871564 SCV002498468 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003072 SCV004820410 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing

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