ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) (rs138421850)

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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 RCV000716088 SCV000846921 benign Seizures 2016-04-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000439332 SCV000511808 likely benign not provided 2016-12-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117370 SCV000228725 benign not specified 2014-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000117370 SCV000522828 benign not specified 2016-01-14 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 RCV000117370 SCV000151553 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.
Invitae RCV000229018 SCV000290494 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-07-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117370 SCV000313673 benign not specified criteria provided, single submitter clinical testing

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