ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.963C>T (p.Thr321=)

gnomAD frequency: 0.00001  dbSNP: rs767914958
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184055 SCV001349927 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001184055 SCV002689038 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-01-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003770036 SCV004603744 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-04-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008427 SCV004823098 likely benign Marfan syndrome 2023-10-02 criteria provided, single submitter clinical testing

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