ClinVar Miner

Submissions for variant GRCh37/hg19 15q11.2(chr15:22750305-23226254)x3

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Cytogenomics Laboratory,Laboratory for Precision Diagnostics, University of Washington RCV000790577 SCV000929929 pathogenic See cases 2018-08-14 criteria provided, single submitter clinical testing A risk factor for neurocognitive abnormalities with low penetrance and variable expressivity; Patient also had 18q21.32(57,940,764-58,095,560)x1 (Pathogenic) and 2q22.1q22.2(141,632,103-142,270,676)x1 (Likely benign)
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center RCV000738656 SCV000866992 benign not provided 2016-12-27 no assertion criteria provided clinical testing

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