ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.961_962del (p.Thr321fs)

dbSNP: rs1555401002
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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 RCV000659506 SCV000781325 likely pathogenic Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
Centre of Medical Genetics, University of Antwerp RCV000659506 SCV002025400 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS1, PP4

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