ClinVar Miner

Submissions for variant NM_006400.4(DCTN2):c.337C>T (p.His113Tyr) (rs863223327)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Medical Genetics, Telemark Hospital Trust RCV000201928 SCV000189424 uncertain significance Charcot-Marie-Tooth disease 2015-12-14 no assertion criteria provided research Novel variant, present in five affected family members with intermediate type Charcot-Marie-Tooth disease, not in three unaffected family members

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