ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.*3928C>T

gnomAD frequency: 0.11111  dbSNP: rs73473919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386299 SCV000467433 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294402 SCV000467434 benign Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001718776 SCV001947629 benign not provided 2021-05-11 criteria provided, single submitter clinical testing

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