ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.633C>A (p.Val211=)

gnomAD frequency: 0.00032  dbSNP: rs140505542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430920 SCV000512660 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318382 SCV000851185 likely benign Inborn genetic diseases 2016-08-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000867826 SCV001009093 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-01-11 criteria provided, single submitter clinical testing

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