ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2384-4637del

dbSNP: rs2116601181
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266862 SCV002548994 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-06-11 criteria provided, single submitter clinical testing

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