ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) (rs34592169)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081587 SCV000113518 benign not specified 2012-08-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081587 SCV000312063 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332935 SCV000467243 benign Pitt-Hopkins-like syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000389811 SCV000467244 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000332935 SCV000677257 benign Pitt-Hopkins-like syndrome 1 2017-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715086 SCV000845911 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000332935 SCV001722685 benign Pitt-Hopkins-like syndrome 1 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001618255 SCV001842878 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081587 SCV000150754 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081587 SCV001743083 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081587 SCV001931882 benign not specified no assertion criteria provided clinical testing

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