ClinVar Miner

Submissions for variant GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003329536 SCV004036122 pathogenic Distal 16p11.2 microdeletion syndrome 2022-12-20 criteria provided, single submitter clinical testing

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