Submissions for variant NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)

gnomAD frequency: 0.59301  dbSNP: rs1801475

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082686	SCV000114730	benign	not specified	2016-05-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082686	SCV000151529	benign	not specified	2013-04-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001703418	SCV000169979	benign	not provided	2020-08-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28038823)
PreventionGenetics, part of Exact Sciences	RCV000082686	SCV000316430	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000020987	SCV000677326	benign	Seizures, benign familial neonatal, 1	2017-04-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311522	SCV000846159	benign	Inborn genetic diseases	2015-12-31	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860235	SCV001000216	benign	Early infantile epileptic encephalopathy with suppression bursts	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730475	SCV001980905	benign	Developmental and epileptic encephalopathy, 7	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020987	SCV001980906	benign	Seizures, benign familial neonatal, 1	2021-08-19	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000082686	SCV005087343	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 86% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 80. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001703418	SCV005311258	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020987	SCV000041631	not provided	Seizures, benign familial neonatal, 1		no assertion provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082686	SCV001740332	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000082686	SCV001928181	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082686	SCV001953649	benign	not specified		no assertion criteria provided	clinical testing
Channelopathy-Associated Epilepsy Research Center	RCV003315299	SCV004015044	not provided	Complex neurodevelopmental disorder		no assertion provided	literature only