ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6739+1G>C

dbSNP: rs869025419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000017898 SCV002025410 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS7, PP4
OMIM RCV000017898 SCV000038177 pathogenic Marfan syndrome 1995-12-01 no assertion criteria provided literature only

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