ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.*3742A>G

gnomAD frequency: 0.47166  dbSNP: rs2530311
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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 RCV000394541 SCV000467419 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281772 SCV000467420 benign Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613193 SCV001834621 benign not provided 2021-05-10 criteria provided, single submitter clinical testing

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