ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2555-184T>G

gnomAD frequency: 0.02297  dbSNP: rs62375019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507773 SCV000603680 benign not specified 2018-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000833820 SCV000975584 likely benign not provided 2018-06-14 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.

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