ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) (rs200642629)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000176945 SCV000151551 likely benign not specified 2014-12-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176945 SCV000228726 benign not specified 2014-08-07 criteria provided, single submitter clinical testing
Invitae RCV001085974 SCV000290493 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176945 SCV000313672 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000418473 SCV000511010 likely benign not provided 2016-10-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000176945 SCV000519675 benign not specified 2016-01-29 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.
Ambry Genetics RCV000717555 SCV000848408 benign Seizures 2016-10-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000418473 SCV001144345 benign not provided 2019-05-02 criteria provided, single submitter clinical testing

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