ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1989C>T (p.Leu663=)

gnomAD frequency: 0.00001  dbSNP: rs766429279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000980287 SCV001128237 likely benign Cortical dysplasia-focal epilepsy syndrome 2022-10-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424514 SCV004161274 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CNTNAP2: BP4, BP7

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