ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.1466-5C>T

gnomAD frequency: 0.00081  dbSNP: rs201975904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002134688 SCV002413706 benign not provided 2023-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951133 SCV004774371 likely benign FBN3-related disorder 2020-01-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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