ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1158C>T (p.Asn386=)

gnomAD frequency: 0.00003  dbSNP: rs368737502
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781374 SCV000919353 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170322 SCV001332892 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170322 SCV001348620 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067378 SCV002458003 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170322 SCV002619871 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-25 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.
All of Us Research Program, National Institutes of Health RCV004001532 SCV004823077 likely benign Marfan syndrome 2023-09-17 criteria provided, single submitter clinical testing

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