ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) (rs151272083)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209930 SCV000265545 likely benign Early infantile epileptic encephalopathy 14 2018-04-16 criteria provided, single submitter research
Invitae RCV001080368 SCV000290486 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-11-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000355238 SCV000340896 likely benign not specified 2016-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000712126 SCV000513388 benign not provided 2020-02-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26105150, 28554332)
Athena Diagnostics Inc RCV000712126 SCV000842547 benign not provided 2014-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717762 SCV000848621 likely benign Seizures 2018-08-07 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Subpopulation frequency in support of benign classification
Mendelics RCV000209930 SCV001137958 likely benign Early infantile epileptic encephalopathy 14 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000712126 SCV001155848 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000712126 SCV001740631 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000712126 SCV001927586 likely benign not provided no assertion criteria provided clinical testing

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