ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1700+3G>A

gnomAD frequency: 0.01419  dbSNP: rs115092422
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350442 SCV000471915 benign Seizures, benign familial neonatal, 2 2018-01-12 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 RCV000391656 SCV000471916 likely benign Benign neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000391656 SCV000555729 benign Benign neonatal seizures 2024-02-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514671 SCV000609713 benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311432 SCV000847342 benign Inborn genetic diseases 2016-01-08 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.
GeneDx RCV000514671 SCV001939015 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000350442 SCV002811958 benign Seizures, benign familial neonatal, 2 2021-10-07 criteria provided, single submitter clinical testing

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