ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.1490dup (p.Phe498fs) (rs1590971080)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cirak Lab,University Hospital Cologne RCV000844879 SCV000965697 pathogenic Charcot-Marie-Tooth disease, type 4B1 2019-04-01 criteria provided, single submitter research This variant was observed as a homozygote.

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