ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.714C>T (p.Ile238=)

dbSNP: rs147882199
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117348 SCV000151531 benign not specified 2015-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000117348 SCV000169958 benign not specified 2012-11-14 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) RCV000117348 SCV000231223 benign not specified 2015-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082402 SCV000252886 benign Early infantile epileptic encephalopathy with suppression bursts 2025-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000117348 SCV000316432 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002312150 SCV000846343 benign Inborn genetic diseases 2016-07-08 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.
Athena Diagnostics RCV000196506 SCV001144320 benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000196506 SCV005311284 benign not provided criteria provided, single submitter not provided

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