ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3716-6C>G (rs77025884)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081603 SCV000113534 benign not specified 2015-08-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000081603 SCV000150765 benign not specified 2014-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000081603 SCV000167816 benign not specified 2013-05-30 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.
PreventionGenetics,PreventionGenetics RCV000081603 SCV000312077 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576591 SCV000677262 benign Pitt-Hopkins-like syndrome 1 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000576591 SCV000766460 benign Pitt-Hopkins-like syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000576591 SCV001326178 likely benign Pitt-Hopkins-like syndrome 1 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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