ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6219C>T (p.Pro2073=)

dbSNP: rs771786623
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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 RCV002548300 SCV001111979 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354857 SCV002655372 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-06-14 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 RCV004004364 SCV004823421 likely benign Marfan syndrome 2023-06-28 criteria provided, single submitter clinical testing

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