ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.6604G>A (p.Gly2202Arg)

gnomAD frequency: 0.00299  dbSNP: rs138457751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512731 SCV000608872 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing FBN3: BS2
PreventionGenetics, part of Exact Sciences RCV003902817 SCV004720259 benign FBN3-related disorder 2019-03-12 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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