ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3432G>A (p.Pro1144=)

gnomAD frequency: 0.00003  dbSNP: rs776614841
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876933 SCV001019575 likely benign RYR1-related disorder 2024-03-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003118 SCV004816561 likely benign Malignant hyperthermia, susceptibility to, 1 2023-11-28 criteria provided, single submitter clinical testing

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