ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5022C>T (p.Ala1674=)

dbSNP: rs751619254
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003757366 SCV004388727 likely benign RYR1-related disorder 2023-01-05 criteria provided, single submitter clinical testing

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