ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.393C>T (p.Asp131=)

gnomAD frequency: 0.00001  dbSNP: rs549054625
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875313 SCV001017621 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-09-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188980 SCV001356172 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193540 SCV001362439 likely benign not specified 2019-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311860 SCV001502200 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing FBN1: BP4, BP7
Ambry Genetics RCV001188980 SCV002624340 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004003104 SCV004823135 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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