ClinVar Miner

Submissions for variant GRCh37/hg19 Xq21.1(chrX:77238734-77312616)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV001089961 SCV001244992 pathogenic Menkes kinky-hair syndrome 2018-09-23 criteria provided, single submitter clinical testing This sample showed a male molecular karyotype with an interstitial hemizygous deletion of approximately 74 kilobases on the long arm of one chromosome X at cytogenetic band q21.1. This microdeletion involves exons 3 to 23 of the ATP7A gene (NM_000052.6). Hemizygous mutations and deletions of ATP7A leading to loss of function of this gene are associated with X linked recessive Menkes disease (Gene Reviews, PMID:20301586, OMIM# 300011).

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