ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1466-4G>A (rs371636769)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241901 SCV000319235 likely benign Cardiovascular phenotype 2017-09-22 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
GeneDx RCV000438437 SCV000513012 likely benign not specified 2015-12-08 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659025 SCV000780829 likely benign not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV001406322 SCV001608272 likely benign Congenital contractural arachnodactyly 2020-01-23 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000659025 SCV001799520 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000659025 SCV001808360 likely benign not provided no assertion criteria provided clinical testing

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