ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10155G>A (p.Ala3385=)

gnomAD frequency: 0.00001  dbSNP: rs746491996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721190 SCV000852197 likely benign not provided 2017-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001400070 SCV001601871 likely benign RYR1-related disorder 2024-01-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999801 SCV004833027 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing

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