ClinVar Miner

Submissions for variant GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics, Universidade de São Paulo RCV001199953 SCV001251973 pathogenic Chromosome 17p13.3 duplication syndrome 2020-05-22 no assertion criteria provided research Pathogenicity assessment according to Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006.

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