ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.*4195T>C

gnomAD frequency: 0.00788  dbSNP: rs76977336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309815 SCV000467443 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343766 SCV000467444 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing

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