ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2172C>T (p.His724=)

dbSNP: rs761665467
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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 RCV001460004 SCV001663864 likely benign RYR1-related disorder 2024-01-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007073 SCV004838397 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-18 criteria provided, single submitter clinical testing

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