ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) (rs34456867)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116772 SCV000167790 benign not specified 2013-01-16 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.
Invitae RCV000230657 SCV000289925 benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116772 SCV000312062 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000116772 SCV000612855 likely benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716616 SCV000847458 benign History of neurodevelopmental disorder 2016-06-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230657 SCV001320655 benign Pitt-Hopkins-like syndrome 1 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory,University of Chicago RCV000116772 SCV000150748 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.