ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.511C>T (p.Arg171Cys) (rs141925556)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145943 SCV000193082 likely pathogenic Chondrodysplasia punctata 2 X-linked dominant 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000439113 SCV000517447 likely benign not specified 2015-06-26 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000171436 SCV000885349 benign not provided 2018-06-17 criteria provided, single submitter clinical testing
Invitae RCV000171436 SCV001024322 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000145943 SCV001141852 uncertain significance Chondrodysplasia punctata 2 X-linked dominant 2019-05-28 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171436 SCV000221634 likely pathogenic not provided no assertion criteria provided research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000171436 SCV001800541 likely benign not provided no assertion criteria provided clinical testing

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