ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5675-12_5675-11insG

gnomAD frequency: 0.00133  dbSNP: rs150372632
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487362 SCV000570782 likely benign not specified 2017-08-22 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.
Invitae RCV002063775 SCV002491776 benign Congenital contractural arachnodactyly 2024-01-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000487362 SCV004038934 benign not specified 2023-08-10 criteria provided, single submitter clinical testing

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