ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val) (rs756509201)

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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	RCV000523490	SCV000612165	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2Q		no assertion criteria provided	clinical testing

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