ClinVar Miner

Submissions for variant GRCh38/hg38 16p11.2(chr16:29662633-30187279)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 RCV000054299 SCV000081664 likely pathogenic See cases 2018-01-24 no assertion criteria provided clinical testing Phenotype now well established for this duplication and fits with phenotype of our patient and 3 other affected members of this family. 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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