ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.691-5C>T

gnomAD frequency: 0.00003  dbSNP: rs886056921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827932 SCV000969603 likely benign not provided 2018-05-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197851 SCV001368631 uncertain significance Developmental and epileptic encephalopathy, 7 2018-12-04 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Invitae RCV001470616 SCV001674712 likely benign Early infantile epileptic encephalopathy with suppression bursts 2021-01-19 criteria provided, single submitter clinical testing

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