ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) (rs375292909)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662099 SCV000784439 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2Q 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662100 SCV000784440 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2018-03-05 criteria provided, single submitter clinical testing

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