ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) (rs149804567)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000176324 SCV000151547 likely benign not specified 2014-12-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176324 SCV000227958 likely benign not specified 2015-02-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176324 SCV000313667 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427452 SCV000511254 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000176324 SCV000523049 likely benign not specified 2017-09-21 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.
Invitae RCV001084423 SCV000563636 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715535 SCV000846364 likely benign Seizures 2019-02-20 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)
Mendelics RCV000988291 SCV001137957 likely benign Early infantile epileptic encephalopathy 14 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000427452 SCV001144342 benign not provided 2019-05-15 criteria provided, single submitter clinical testing

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