ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2658G>A (p.Pro886=)

gnomAD frequency: 0.00003  dbSNP: rs193922192
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Total submissions: 8
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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 RCV000029714 SCV000052367 likely benign Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
GeneDx RCV000868177 SCV000728416 likely benign not provided 2021-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001188351 SCV000738759 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-01-12 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.
Color Diagnostics, LLC DBA Color Health RCV001188351 SCV001355393 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001456766 SCV001660553 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490413 SCV002799198 likely benign Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-09-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000868177 SCV004184459 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FBN1: BP4, BP7
All of Us Research Program, National Institutes of Health RCV000029714 SCV004814885 likely benign Marfan syndrome 2024-01-12 criteria provided, single submitter clinical testing

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