ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.648C>T (p.Ala216=) (rs1060504950)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472367 SCV000563205 likely benign Charcot-Marie-Tooth disease, dominant intermediate B 2016-07-31 criteria provided, single submitter clinical testing

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