ClinVar Miner

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

dbSNP: 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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