ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu)

gnomAD frequency: 0.00165  dbSNP: rs147173555
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724075 SCV000226290 uncertain significance not provided 2015-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000724075 SCV000241590 benign not provided 2019-03-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000515326 SCV000611477 uncertain significance Seizures, benign familial neonatal, 2 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV001087307 SCV000769707 benign Benign neonatal seizures 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313035 SCV000847519 likely benign Inborn genetic diseases 2017-12-15 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.
Illumina Laboratory Services, Illumina RCV000515326 SCV001322711 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.
CeGaT Center for Human Genetics Tuebingen RCV000724075 SCV004698636 benign not provided 2024-02-01 criteria provided, single submitter clinical testing KCNQ3: BS1, BS2

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