ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3540C>T (p.Ser1180=)

gnomAD frequency: 0.00002  dbSNP: rs377629345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535625 SCV000645109 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000607340 SCV000714994 likely benign not specified 2017-10-03 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.

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