ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.800+7C>T

gnomAD frequency: 0.00003  dbSNP: rs762118960
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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 RCV000541230 SCV000660052 likely benign RYR1-related disorder 2024-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000721690 SCV000852817 uncertain significance not provided 2015-07-30 criteria provided, single submitter clinical testing

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