ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7013-7T>A

gnomAD frequency: 0.00022  dbSNP: rs191729449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125073 SCV000168513 benign not specified 2014-04-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866898 SCV001008060 benign Congenital contractural arachnodactyly 2025-01-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736591 SCV004563608 likely benign not provided 2023-11-21 criteria provided, single submitter clinical testing

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