ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.7846G>A (p.Gly2616Arg)

gnomAD frequency: 0.00503  dbSNP: rs142418616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000882063 SCV001025281 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882063 SCV004146500 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FBN3: BS2
PreventionGenetics, part of Exact Sciences RCV003975543 SCV004789917 benign FBN3-related disorder 2019-03-04 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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