ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1113T>C (p.Thr371=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003790341 SCV004580153 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004366585 SCV005032534 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-21 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.

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