ClinVar Miner

Submissions for variant NM_007287.3(MME):c.1972G>A (p.Ala658Thr) (rs1559963660)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000754742 SCV000882631 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2T 2018-10-08 criteria provided, single submitter clinical testing

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