ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.4020T>C (p.Asn1340=)

gnomAD frequency: 0.00249  dbSNP: rs141016150
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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 RCV000912040 SCV001057125 benign not provided 2024-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000912040 SCV004146513 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing FBN3: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000912040 SCV005315218 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003923174 SCV004743180 benign FBN3-related disorder 2019-03-04 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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