ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.*3616C>T

gnomAD frequency: 0.00069  dbSNP: rs534404412
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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 RCV000332371 SCV000467415 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388929 SCV000467416 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing

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