ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.6978T>C (p.Cys2326=)

gnomAD frequency: 0.00220  dbSNP: rs112806081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002127413 SCV002402410 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903423 SCV004720245 likely benign FBN3-related disorder 2019-12-05 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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