ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.7411C>T (p.Arg2471Cys)

gnomAD frequency: 0.00202  dbSNP: rs147683023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893001 SCV001036913 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910629 SCV004720927 benign FBN3-related disorder 2019-08-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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