ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.51G>T (p.Glu17Asp)

dbSNP: rs2082239531
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330503 SCV001522195 uncertain significance Developmental and epileptic encephalopathy, 7 2019-06-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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