ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1301+15G>A

gnomAD frequency: 0.00004  dbSNP: rs571128290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599658 SCV000728599 likely benign not specified 2017-09-22 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 RCV002066653 SCV002332973 likely benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-08 criteria provided, single submitter clinical testing

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