ClinVar Miner

Submissions for variant GRCh37/hg19 Xq28(chrX:153138672-153665655)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626549 SCV000747250 pathogenic Microcytic anemia; Motor delay; Abnormal facial shape; Intellectual disability 2017-01-01 criteria provided, single submitter clinical testing

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