ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) (rs10240503)

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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 RCV000081593 SCV000113524 benign not specified 2013-05-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081593 SCV000312068 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322991 SCV000467269 benign Pitt-Hopkins-like syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377524 SCV000467270 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000322991 SCV000677259 benign Pitt-Hopkins-like syndrome 1 2017-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715040 SCV000845864 benign History of neurodevelopmental disorder 2016-03-11 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 RCV000322991 SCV001730074 benign Pitt-Hopkins-like syndrome 1 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001650924 SCV001865631 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081593 SCV000150760 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 RCV000081593 SCV001742735 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081593 SCV001927112 benign not specified no assertion criteria provided clinical testing

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