ClinVar Miner

Submissions for variant GRCh37/hg19 15q21.1(chr15:48789463-48791235)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV002246072 SCV002025481 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS7, PP4

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