ClinVar Miner

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

gnomAD frequency: 0.59301  dbSNP: rs1801475
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Total submissions: 14
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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 Inc 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: 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.
Invitae RCV000860235 SCV001000216 benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-01 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
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

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