ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=)

gnomAD frequency: 0.00008  dbSNP: rs201634501
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231574 SCV000287281 likely benign Congenital contractural arachnodactyly 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001722229 SCV000728430 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315700 SCV000738985 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-09-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003897538 SCV004716341 likely benign FBN2-related condition 2022-02-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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