ClinVar Miner

Submissions for variant GRCh38/hg38 16p11.2(chr16:29662635-30186020)x3

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 15 RCV000054374 SCV000081742 likely pathogenic See cases 2018-01-24 no assertion criteria provided clinical testing Phenotype now well established for this duplication and partially fits with phenotype of our patient. As incomplete penetrance regard as likely pathogenic rather than pathogenic as no explanation as to why some individuals are affected and some not.

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