ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.3972G>C (p.Ala1324=)

dbSNP: rs200451188
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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 RCV002219810 SCV002377485 likely benign RYR1-related disorder 2021-04-19 criteria provided, single submitter clinical testing

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