ClinVar Miner

Submissions for variant NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Biochemistry,Quaid-i-Azam University RCV000191013 SCV000218427 pathogenic X-linked ichthyosis with steryl-sulfatase deficiency 2015-01-16 no assertion criteria provided research The characteristic sex-linked segregation of phenotype and concomitant finding of recurrent microdeletions at Xp22.31 in this report as well as in previous findings strongly suggest the clinical significance of these microdeletions in X-linked icthyosis

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