ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) (rs74582884)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718726 SCV000849590 likely benign Seizures 2017-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081107 SCV000113015 benign not specified 2014-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000081107 SCV000513384 likely benign not specified 2017-10-17 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.
GeneReviews RCV000661926 SCV000041085 pathogenic Benign familial neonatal seizures 2 2010-04-27 no assertion criteria provided curation Converted during submission to Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000081107 SCV000247669 likely benign not specified 2016-03-31 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661926 SCV000784250 likely benign Benign familial neonatal seizures 2 2018-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384756 SCV000471913 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290815 SCV000471914 likely benign Benign familial neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000290815 SCV000555735 likely benign Benign familial neonatal seizures 2017-12-12 criteria provided, single submitter clinical testing

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