ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2773+76del

dbSNP: rs5888307
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987994 SCV001137537 benign Cortical dysplasia-focal epilepsy syndrome 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001619871 SCV001842872 benign not provided 2019-08-26 criteria provided, single submitter clinical testing

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