ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6765C>T (p.Asn2255=)

dbSNP: rs140044610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829290 SCV000971006 likely benign not provided 2018-04-27 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.
Ambry Genetics RCV002363185 SCV002661682 benign Familial thoracic aortic aneurysm and aortic dissection 2021-11-11 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV002536113 SCV003445245 benign Congenital contractural arachnodactyly 2022-09-27 criteria provided, single submitter clinical testing

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