ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr)

gnomAD frequency: 0.00001  dbSNP: rs1373690375
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV000663686 SCV004828475 uncertain significance Marfan syndrome 2023-06-28 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000663686 SCV000787017 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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