ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1440+10T>A

gnomAD frequency: 0.00001  dbSNP: rs768956311
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863172 SCV001003783 likely benign RYR1-Related Disorders 2024-01-25 criteria provided, single submitter clinical testing

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