ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.1589-14A>G (rs1566915335)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf RCV000766242 SCV000897657 likely pathogenic Marfan syndrome 2018-11-20 criteria provided, single submitter research Cryptic acceptor gain is predicted by in silico prediction programs (HSF, MaxEnt). Impact on pre-mRNA splicing was experimentally confirmed.

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