ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7A>C (p.Arg3=)

dbSNP: rs1466844222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599639 SCV000730883 likely benign not specified 2017-05-18 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 RCV001811119 SCV001473543 likely benign not provided 2019-10-08 criteria provided, single submitter clinical testing
Invitae RCV003640922 SCV004549928 likely benign Congenital contractural arachnodactyly 2023-06-20 criteria provided, single submitter clinical testing

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