ClinVar Miner

Submissions for variant NG_013224.2:g.(?_4960)_(103567_105489)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Section on Translational Neuroscience, Molecular Medicine Program; NICHD; National Institutes of Health RCV000128526 SCV000172169 likely benign Menkes kinky-hair syndrome no assertion criteria provided clinical testing The variant was identified prenatally and suggested risk for Menkes disease, which did not however develop.

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