ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)

gnomAD frequency: 0.00003  dbSNP: rs761947423
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559158 SCV000627929 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000465 SCV001157314 likely benign not specified 2019-01-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170769 SCV001333375 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-03-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170769 SCV001339899 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170769 SCV002635874 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-05-25 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001000465 SCV004030041 likely benign not specified 2023-07-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003787 SCV004814700 likely benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing

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