ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.8366C>A (p.Pro2789Gln)

gnomAD frequency: 0.00218  dbSNP: rs35794930
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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 RCV000904129 SCV001048632 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000904129 SCV004146498 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing FBN3: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000904129 SCV005208095 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003912915 SCV004733841 benign FBN3-related disorder 2019-04-01 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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