ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=)

gnomAD frequency: 0.00016  dbSNP: rs117876038
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124380 SCV000167811 benign not specified 2014-04-15 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.
Genetic Services Laboratory, University of Chicago RCV000124380 SCV000247064 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726262 SCV000343256 uncertain significance not provided 2016-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079447 SCV001005310 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-11-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001079447 SCV001326175 uncertain significance Cortical dysplasia-focal epilepsy syndrome 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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