ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2729-3del

dbSNP: rs756503206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529462 SCV000627867 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001188954 SCV000738878 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-05-05 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 RCV001188954 SCV001356145 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-13 criteria provided, single submitter clinical testing

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