ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7841-16G>T

gnomAD frequency: 0.00063  dbSNP: rs201231807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125080 SCV000168520 benign not specified 2013-05-13 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812045 SCV001158787 benign not provided 2023-05-10 criteria provided, single submitter clinical testing
Invitae RCV002055541 SCV002440587 benign Congenital contractural arachnodactyly 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125080 SCV004029382 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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