ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.4006G>C (p.Ala1336Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003764492 SCV004563732 uncertain significance Congenital myopathy 20 2023-11-29 criteria provided, single submitter clinical testing

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