ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1506G>A (p.Ala502=)

gnomAD frequency: 0.00001  dbSNP: rs780293757
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081684 SCV000291568 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000830993 SCV000972732 likely benign not provided 2018-06-12 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.
CeGaT Center for Human Genetics Tuebingen RCV000830993 SCV004699953 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing KCNQ2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000830993 SCV005210147 likely benign not provided criteria provided, single submitter not provided

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