ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717762 SCV000848621 likely benign Seizures 2017-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)
Athena Diagnostics Inc RCV000712126 SCV000842547 benign not provided 2014-06-12 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 RCV000355238 SCV000513388 likely benign not specified 2017-12-05 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.
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 RCV000230529 SCV000290486 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-11-07 criteria provided, single submitter clinical testing

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