ClinVar Miner

Submissions for variant GRCh38/hg38 11q13.2(chr11:66520912-66526178)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Disease Modeling,Duke University Medical Center RCV000498013 SCV000296042 likely pathogenic Bardet-Biedl syndrome 2016-07-20 no assertion criteria provided research

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