ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) (rs78484531)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087913 SCV000287258 benign Congenital contractural arachnodactyly 2020-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252574 SCV000318782 likely benign Cardiovascular phenotype 2017-05-30 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726061 SCV000341606 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000369172 SCV000513015 benign not specified 2016-02-10 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.

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