ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2985A>G (p.Ala995=)

gnomAD frequency: 0.00004  dbSNP: rs768859093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431048 SCV000520008 likely benign not specified 2017-01-06 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 RCV000806483 SCV000946487 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-02-14 criteria provided, single submitter clinical testing

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