ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.894C>T (p.His298=)

gnomAD frequency: 0.00004  dbSNP: rs200961501
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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 RCV000867121 SCV001008314 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001672971 SCV001883285 likely benign not provided 2020-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442830 SCV002682078 likely benign Inborn genetic diseases 2017-07-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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