ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.551-11_551-10insG

gnomAD frequency: 0.42413  dbSNP: rs35167289
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081607 SCV000113538 benign not specified 2013-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345245 SCV000467215 benign Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392429 SCV000467216 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001719842 SCV000714948 benign not provided 2019-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000345245 SCV002405135 benign Cortical dysplasia-focal epilepsy syndrome 2025-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345397 SCV002651096 benign Inborn genetic diseases 2016-05-31 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.

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