ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2883C>T (p.Ser961=)

gnomAD frequency: 0.00002  dbSNP: rs549742316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432536 SCV000512669 likely benign not specified 2016-06-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061361 SCV002489249 likely benign Cortical dysplasia-focal epilepsy syndrome 2025-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422386 SCV004161277 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing CNTNAP2: BP4, BP7

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