ClinVar Miner

Submissions for variant NM_032447.5(FBN3):c.3099C>T (p.Arg1033=)

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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 RCV003406822 SCV004146518 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing FBN3: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003919145 SCV004737328 benign FBN3-related disorder 2019-07-19 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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