ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.3875A>G (p.Asp1292Gly)

gnomAD frequency: 0.00653  dbSNP: rs146679363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002130023 SCV002411776 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002130023 SCV004146514 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing FBN3: BS2
PreventionGenetics, part of Exact Sciences RCV003923677 SCV004740690 benign FBN3-related disorder 2019-03-14 criteria provided, single submitter 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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