ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3990C>T (p.Leu1330=)

gnomAD frequency: 0.00002  dbSNP: rs1057522590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704342 SCV000528487 likely benign not provided 2020-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000644751 SCV000766455 likely benign Cortical dysplasia-focal epilepsy syndrome 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374682 SCV002625007 likely benign Inborn genetic diseases 2018-07-27 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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