ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.5223C>T (p.Ile1741=)

gnomAD frequency: 0.00089  dbSNP: rs138444808
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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 RCV000879179 SCV001022194 benign not provided 2025-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000879179 SCV004146509 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing FBN3: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000879179 SCV005315201 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920481 SCV004730750 likely benign FBN3-related disorder 2020-01-02 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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