ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.4463G>A (p.Arg1488Gln)

gnomAD frequency: 0.00260  dbSNP: rs35442268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000906043 SCV001050660 likely benign not provided 2024-10-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000906043 SCV005208103 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003912943 SCV004743082 benign FBN3-related disorder 2019-09-25 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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