ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln) (rs1568283807)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000681629 SCV000809072 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B; Myopathy, centronuclear, 1; Lethal congenital contracture syndrome 5 2018-04-04 criteria provided, single submitter clinical testing

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