ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.132G>C (p.Pro44=) (rs199702573)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524876 SCV000630184 benign Congenital contractural arachnodactyly 2020-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000609307 SCV000728421 likely benign not specified 2017-08-08 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 RCV000618740 SCV000738953 likely benign Cardiovascular phenotype 2017-07-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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