ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1021G>A (p.Glu341Lys) (rs864309705)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203274 SCV000256741 likely pathogenic Charcot-Marie-Tooth disease, dominant intermediate B 2014-09-25 criteria provided, single submitter research

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