ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4905C>T (p.Thr1635=)

dbSNP: rs113115949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001182483 SCV000319334 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-11-19 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.
Color Diagnostics, LLC DBA Color Health RCV001182483 SCV001347945 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001426914 SCV001629575 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995693 SCV004814688 likely benign Marfan syndrome 2023-10-02 criteria provided, single submitter clinical testing

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