ClinVar Miner

Submissions for variant NM_006486.3(FBLN1):c.1925G>T (p.Arg642Leu)

gnomAD frequency: 0.00102  dbSNP: rs143377110
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000298703 SCV000336922 likely benign not specified 2018-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059151 SCV002343283 benign not provided 2025-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002059151 SCV005206592 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920075 SCV004729927 likely benign FBLN1-related disorder 2019-05-02 no assertion criteria provided 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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