ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2659del (p.Leu887fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences RCV001169837 SCV001244942 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2Q 2020-04-26 no assertion criteria provided clinical testing A 14-year-old boy developed subacute bilateral foot drop and plantar flexion weakness at age 12. Bicipital and knee DTRs were preserved and upper limbs seemed normal. The electrodiagnostic study was in favor of length-dependent sensorimotor axonal polyneuropathy.

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