ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) (rs370580872)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417786 SCV000528116 benign not specified 2016-09-20 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 RCV000417786 SCV000613890 benign not specified 2017-03-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726710 SCV000702321 uncertain significance not provided 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV000726710 SCV000772536 benign not provided 2018-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718838 SCV000849702 likely benign Seizures 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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