ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.629-19T>C

gnomAD frequency: 0.00003  dbSNP: rs374428361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603821 SCV000724633 likely benign not specified 2017-11-14 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.
Invitae RCV002065389 SCV002322447 likely benign Congenital contractural arachnodactyly 2023-11-25 criteria provided, single submitter clinical testing

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