ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14757C>T (p.Ile4919=)

dbSNP: rs772118920
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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 RCV002200239 SCV002358351 likely benign RYR1-related disorder 2021-07-27 criteria provided, single submitter clinical testing

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