ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.273T>C (p.Asn91=)

gnomAD frequency: 0.00001  dbSNP: rs773595457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724851 SCV000229122 uncertain significance not provided 2015-05-21 criteria provided, single submitter clinical testing
GeneDx RCV000177278 SCV000512658 benign not specified 2015-08-14 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 RCV001490003 SCV001694558 likely benign Cortical dysplasia-focal epilepsy syndrome 2023-11-18 criteria provided, single submitter clinical testing

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