ClinVar Miner

Submissions for variant GRCh37/hg19 Xq26.2(chrX:132834006-132986815)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Bologna, Medical Genetics Unit,University of Bologna RCV000210226 SCV000266253 pathogenic Simpson-Golabi-Behmel syndrome no assertion criteria provided clinical testing Loss-of function variant as previously published causative mutations; phenotype overlapping Simpson-Golabi-Behmel syndrome clinical features

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