ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5788+1G>T

dbSNP: rs1555395819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001662733 SCV001872663 pathogenic not provided 2021-07-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 19293843, 29357934, 16476890, 25525159)
Center for Medical Genetics Ghent, University of Ghent RCV000663818 SCV000787170 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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