ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) (rs35538317)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715665 SCV000846495 benign Seizures 2016-04-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000117353 SCV000613878 benign not specified 2016-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000117353 SCV000169994 benign not specified 2013-06-21 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.
Genetic Services Laboratory, University of Chicago RCV000117353 SCV000151536 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000355353 SCV000471921 likely benign Benign familial neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265351 SCV000471922 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000355353 SCV000555737 benign Benign familial neonatal seizures 2017-11-20 criteria provided, single submitter clinical testing

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