ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) (rs141521745)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000345039 SCV000343532 benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Invitae RCV001080692 SCV000652961 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000345039 SCV000730845 benign not specified 2017-03-28 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.
Athena Diagnostics Inc RCV000712129 SCV000842551 benign not provided 2018-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715626 SCV000846455 likely benign Seizures 2016-05-02 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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