ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)

dbSNP: rs754992689
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001525307 SCV000317356 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-23 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.
GeneDx RCV000839774 SCV000981681 likely benign not provided 2018-05-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001525307 SCV001735366 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519948 SCV003517232 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-08-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000839774 SCV004184454 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 RCV003999000 SCV004816758 likely benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000839774 SCV001807524 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000839774 SCV001928184 likely benign not provided no assertion criteria provided clinical testing

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