ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.*3540G>A

gnomAD frequency: 0.02773  dbSNP: rs114585910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000271547 SCV000467411 likely benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000328707 SCV000467412 likely benign Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001672687 SCV001891043 benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672687 SCV005219818 likely benign not provided criteria provided, single submitter not provided

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