ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4943-1G>A

dbSNP: rs1555396863
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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 Genetics, Inc, Center for Human Genetics, Inc RCV000659547 SCV000781378 likely pathogenic Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000659547 SCV000787102 pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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