ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) (rs148024160)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035208 SCV000058852 likely benign not specified 2014-08-26 criteria provided, single submitter clinical testing Ser1561Ser in exon 37 of FBN1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (10/4396) of A frican American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS/; dbSNP rs148024160).
GeneDx RCV000035208 SCV000512996 benign not specified 2016-06-28 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 RCV000621650 SCV000738760 likely benign Cardiovascular phenotype 2017-05-30 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000632053 SCV000753156 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-10-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000035208 SCV001157322 likely benign not specified 2018-08-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV001183301 SCV001348996 benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-20 criteria provided, single submitter clinical testing

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