ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.816+2T>A

dbSNP: rs2081186625
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253151 SCV001428724 likely pathogenic Developmental and epileptic encephalopathy, 7 2019-06-14 criteria provided, single submitter clinical testing

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