ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.954C>A (p.Gly318=)

gnomAD frequency: 0.00009  dbSNP: rs143224896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186635 SCV000169990 benign not specified 2014-03-26 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.
Eurofins Ntd Llc (ga) RCV000724468 SCV000231690 uncertain significance not provided 2015-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442576 SCV001645527 likely benign Benign neonatal seizures 2024-09-09 criteria provided, single submitter clinical testing

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