ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.*916TAGTT[1]

dbSNP: rs569195865
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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 RCV000316499 SCV000467329 benign Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380508 SCV000467330 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing

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