ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2071G>A (p.Gly691Ser)

gnomAD frequency: 0.00002  dbSNP: rs747379988
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721204 SCV000241592 likely benign not provided 2020-03-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370281 SCV000471901 benign Seizures, benign familial neonatal, 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000275862 SCV000471902 likely benign Benign neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000275862 SCV001007922 likely benign Benign neonatal seizures 2023-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415808 SCV002727711 likely benign Inborn genetic diseases 2018-08-30 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.
CeGaT Center for Human Genetics Tuebingen RCV001721204 SCV004163231 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing KCNQ3: BS2

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