ClinVar Miner

Submissions for variant NCBI36/hg18 17p13.1(chr17:6853665-8107394)x4

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210386 SCV000258456 likely pathogenic Chromosome 17p13.1 deletion syndrome 2015-11-06 criteria provided, single submitter research

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