ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) (rs9648691)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081604 SCV000113535 benign not specified 2013-05-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081604 SCV000312079 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358915 SCV000467301 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 RCV000264064 SCV000467302 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000358915 SCV000677263 benign Pitt-Hopkins-like syndrome 1 2017-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715041 SCV000845865 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 RCV000358915 SCV001728751 benign Pitt-Hopkins-like syndrome 1 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000358915 SCV001821542 benign Pitt-Hopkins-like syndrome 1 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001610376 SCV001840937 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081604 SCV000150766 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 RCV000081604 SCV001741746 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081604 SCV001926250 benign not specified no assertion criteria provided clinical testing

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