Submissions for variant NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=)

gnomAD frequency: 0.00008  dbSNP: rs587781011

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126492	SCV000169999	benign	not specified	2013-06-19	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)	RCV000727123	SCV000705941	uncertain significance	not provided	2017-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727123	SCV001155479	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	KCNQ3: BP4, BP7
Invitae	RCV001448701	SCV001651800	likely benign	Benign neonatal seizures	2023-08-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000727123	SCV001926293	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727123	SCV001969323	likely benign	not provided		no assertion criteria provided	clinical testing