ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.297-18C>T

gnomAD frequency: 0.00034  dbSNP: rs370109710
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126448 SCV000169955 benign not specified 2013-05-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055645 SCV002408835 benign Early infantile epileptic encephalopathy with suppression bursts 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001529748 SCV005311288 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529748 SCV001743751 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529748 SCV001930893 likely benign not provided no assertion criteria provided clinical testing

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