ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg)

dbSNP: rs1057518772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199299 SCV001370377 likely pathogenic Developmental and epileptic encephalopathy, 7 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. This variant arose de novo in at least one reported proband.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415407 SCV000492560 likely pathogenic Intellectual disability 2016-03-09 no assertion criteria provided clinical testing

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