ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.936T>C (p.Tyr312=)

gnomAD frequency: 0.00001  dbSNP: rs774997884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081011 SCV000766437 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000828018 SCV000969693 likely benign not provided 2018-06-05 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.
CeGaT Center for Human Genetics Tuebingen RCV000828018 SCV004701640 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CNTNAP2: BP4, BP7

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