ClinVar Miner

Submissions for variant GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 1 RCV000050432 SCV000175148 likely pathogenic See cases 2018-02-14 no assertion criteria provided clinical testing
ISCA site 4 RCV000050432 SCV000175149 pathogenic See cases 2010-03-30 no assertion criteria provided clinical testing
ISCA site 4 RCV000487482 SCV000188477 pathogenic See cases 2018-02-15 no assertion criteria provided clinical testing

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