ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.3463+3G>A

gnomAD frequency: 0.00497  dbSNP: rs192897269
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960309 SCV001107274 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960309 SCV004146515 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing FBN3: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000960309 SCV005315232 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003926123 SCV004739069 likely benign FBN3-related disorder 2019-02-27 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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