ClinVar Miner

Submissions for variant GRCh38/hg38 9p21.2(chr9:27040565-27060992)

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Total submissions: 2
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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 RCV000498953 SCV000296058 likely pathogenic Bardet-Biedl syndrome 2016-07-20 no assertion criteria provided research
OMIM RCV000240908 SCV000299367 pathogenic Bardet-Biedl syndrome 20 2016-09-20 no assertion criteria provided literature only

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