ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2955C>T (p.His985=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002441912 SCV002750174 likely benign Inborn genetic diseases 2018-12-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102918 SCV003284071 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-09-04 criteria provided, single submitter clinical testing

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