ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) (rs139180845)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081585 SCV000113516 benign not specified 2013-07-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081585 SCV000150751 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000081585 SCV000240751 likely benign not specified 2017-10-20 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224007 SCV000281151 likely benign not provided 2016-04-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000987992 SCV000563232 likely benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715112 SCV000845938 likely benign History of neurodevelopmental disorder 2018-10-12 criteria provided, single submitter clinical testing Insufficient evidence
Mendelics RCV000987992 SCV001137535 benign Pitt-Hopkins-like syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987992 SCV001326004 uncertain significance Pitt-Hopkins-like syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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