ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.8385C>T (p.Ile2795=) (rs138574576)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246513 SCV000317719 likely benign Thoracic aortic aneurysm and aortic dissection 2012-08-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000246513 SCV000902106 likely benign Thoracic aortic aneurysm and aortic dissection 2016-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000035290 SCV000532110 likely benign not specified 2017-11-15 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.
Invitae RCV000632035 SCV000753138 benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-08-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035290 SCV000058938 likely benign not specified 2012-02-02 criteria provided, single submitter clinical testing Ile2795Ile in exon 65 of FBN1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located near a splice junction, and it has been identified in 0.08% (3/3738) of African Americ an chromosomes by the NHLBI Exome sequencing project in a broad population (http ://evs.gs.washington.edu/EVS, rs138574576).

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