ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3678C>G (p.Ser1226=)

dbSNP: rs201219937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314442 SCV000848038 likely benign Inborn genetic diseases 2016-10-17 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000863095 SCV001003695 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001712736 SCV001946051 likely benign not provided 2019-06-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816760 SCV002065713 likely benign not specified 2018-10-12 criteria provided, single submitter clinical testing

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