ClinVar Miner

Submissions for variant NM_001039550.2(DNAJB2):c.343G>T (p.Glu115Ter) (rs797045039)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191078 SCV000245472 pathogenic Charcot-Marie-Tooth disease, axonal, type 2T 2013-10-25 criteria provided, single submitter clinical testing Pathogenicity based on finding it once in our laboratory in a homozygous state in a 35-year-old male with adult-onset hearing loss and motor neuropathy by nerve conduction studies. A similarly affected sib was also homozygous, and an unaffected sibling was heterozygous.

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