ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5549-18G>A

gnomAD frequency: 0.00009  dbSNP: rs371995872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197670 SCV000250116 benign not specified 2014-12-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680525 SCV000807928 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV002054297 SCV002450738 likely benign Congenital contractural arachnodactyly 2023-12-04 criteria provided, single submitter clinical testing

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