ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1897+8T>A

gnomAD frequency: 0.00014  dbSNP: rs769157591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418193 SCV000534382 likely benign not specified 2016-11-29 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.
Invitae RCV002060048 SCV002435272 likely benign Cortical dysplasia-focal epilepsy syndrome 2023-11-20 criteria provided, single submitter clinical testing

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