ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8364G>A (p.Thr2788=)

gnomAD frequency: 0.00001  dbSNP: rs112945086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728036 SCV000855559 uncertain significance not provided 2017-07-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182521 SCV001347988 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001400253 SCV001602057 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001182521 SCV004002667 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-05-22 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 RCV003999880 SCV004844897 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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