ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.755-5C>T (rs369675346)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124354 SCV000167785 benign not specified 2014-02-20 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.
Genetic Services Laboratory, University of Chicago RCV000124354 SCV000594165 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711334 SCV000707726 uncertain significance not provided 2017-04-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711334 SCV000841676 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768190 SCV000898621 uncertain significance Autism 15; Pitt-Hopkins-like syndrome 1 2018-07-03 criteria provided, single submitter clinical testing CNTNAP2 NM_014141.5 exon 6 c.755-5C>T: This variant has not been reported in the literature but is present in 23/126370 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs369675346). This variant is present in ClinVar (Variation ID:136809). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656005 SCV000588281 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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