ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4803C>T (p.Thr1601=)

gnomAD frequency: 0.00003  dbSNP: rs747757998
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867930 SCV001009207 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179808 SCV001344590 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192806 SCV001361167 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001179808 SCV004093428 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-06-19 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.
All of Us Research Program, National Institutes of Health RCV004003009 SCV004814693 likely benign Marfan syndrome 2023-10-27 criteria provided, single submitter clinical testing

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