ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=)

gnomAD frequency: 0.00131  dbSNP: rs78731303
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000174900 SCV000169998 benign not specified 2012-03-22 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) RCV000174900 SCV000226293 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Invitae RCV000457889 SCV000555736 benign Benign neonatal seizures 2024-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316386 SCV000850917 likely benign Inborn genetic diseases 2017-02-06 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000174900 SCV001476656 benign not specified 2020-08-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436945 SCV004163235 benign not provided 2022-03-01 criteria provided, single submitter clinical testing KCNQ3: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003945129 SCV004762183 benign KCNQ3-related disorder 2019-11-07 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).

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