ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10441-10G>A

gnomAD frequency: 0.00013  dbSNP: rs200939091
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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 RCV000862497 SCV001003010 benign RYR1-related disorder 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001560696 SCV001783157 likely benign not provided 2018-07-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514424 SCV004358184 benign Malignant hyperthermia, susceptibility to, 1 2022-11-06 criteria provided, single submitter clinical testing

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