ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7617C>T (p.Gly2539=) (rs1388794275)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757278 SCV000885437 uncertain significance not provided 2017-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620649 SCV000738848 likely benign Cardiovascular phenotype 2016-10-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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