ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.388-9C>G

dbSNP: rs371784719
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194809 SCV000247663 uncertain significance not specified 2015-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001711606 SCV000523052 likely benign not provided 2019-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054268 SCV002325510 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-04-22 criteria provided, single submitter clinical testing

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