ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4087+1G>A

dbSNP: rs387906548
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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 RCV000659538 SCV000781365 pathogenic Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
OMIM RCV000017904 SCV000038183 pathogenic Neonatal Marfan syndrome 1995-04-01 no assertion criteria provided literature only

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