ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3198C>T (p.Tyr1066=)

gnomAD frequency: 0.00001  dbSNP: rs772842467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703786 SCV000523540 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062590 SCV002474474 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323608 SCV002609664 likely benign Inborn genetic diseases 2017-12-18 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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