ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3123C>T (p.His1041=)

dbSNP: rs576395584
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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 RCV000544482 SCV000627885 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000841247 SCV000983205 likely benign not provided 2020-01-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191101 SCV001358796 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001191101 SCV002041969 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001191101 SCV002607424 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-21 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 RCV004003782 SCV004814831 likely benign Marfan syndrome 2023-11-20 criteria provided, single submitter clinical testing

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