ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2835C>T (p.Ala945=)

gnomAD frequency: 0.00006  dbSNP: rs140389544
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472184 SCV000557045 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000772082 SCV000905114 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844168 SCV002103366 likely benign not specified 2022-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772082 SCV002752635 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-05-24 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 RCV004002115 SCV004814864 likely benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing

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