ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2949C>T (p.Ser983=)

gnomAD frequency: 0.00002  dbSNP: rs769307676
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659522 SCV000781348 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871721 SCV001013425 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-08-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179864 SCV001344661 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-08 criteria provided, single submitter clinical testing
GeneDx RCV001562038 SCV001784743 likely benign not provided 2020-07-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004198 SCV004814849 likely benign Marfan syndrome 2023-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001179864 SCV005032539 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-09-30 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.

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