ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) (rs2286128)

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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 RCV000081588 SCV000113519 benign not specified 2012-12-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081588 SCV000150755 benign not specified 2013-09-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081588 SCV000312064 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269643 SCV000467245 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 RCV000326957 SCV000467246 likely benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000269643 SCV000563246 benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711327 SCV000841668 benign not provided 2017-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715104 SCV000845930 benign History of neurodevelopmental disorder 2016-03-16 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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