ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met)

gnomAD frequency: 0.00096  dbSNP: rs146492238
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117335 SCV000151516 benign not specified 2021-10-11 criteria provided, single submitter clinical testing
GeneDx RCV001704024 SCV000241433 benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Invitae RCV000233438 SCV000291566 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000117335 SCV000342011 likely benign not specified 2016-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313894 SCV000847405 benign Inborn genetic diseases 2017-09-29 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.
CeGaT Center for Human Genetics Tuebingen RCV001704024 SCV004150924 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KCNQ2: BS1
PreventionGenetics, part of Exact Sciences RCV004529969 SCV004743092 benign KCNQ2-related disorder 2019-09-10 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001704024 SCV002033858 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001704024 SCV002038397 likely benign not provided no assertion criteria provided clinical testing

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