ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Cologne University RCV001263154 SCV001441236 likely pathogenic Charcot-marie-tooth disease, axonal, type 2ee 2020-09-30 criteria provided, single submitter research

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