ClinVar Miner

Submissions for variant GRCh37/hg19 16p11.2(chr16:29595483-30199713)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000767612 SCV000898234 pathogenic Chromosome 16p11.2 duplication syndrome 2018-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000767658 SCV000898280 pathogenic Proximal 16p11.2 microdeletion syndrome 2018-11-01 criteria provided, single submitter clinical testing

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