ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.*3999del

dbSNP: rs35835723
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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 RCV000279159 SCV000467437 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000336533 SCV000467438 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696007 SCV005195717 uncertain significance not provided criteria provided, single submitter not provided

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