ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3903G>A (p.Ala1301=)

gnomAD frequency: 0.00016  dbSNP: rs146206159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705560 SCV000512673 likely benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525985 SCV000645117 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318383 SCV000850076 likely benign Inborn genetic diseases 2016-07-01 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.
CeGaT Center for Human Genetics Tuebingen RCV001705560 SCV004161283 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CNTNAP2: BP4, BP7

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