ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) (rs147173555)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716677 SCV000847519 likely benign Seizures 2017-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724075 SCV000226290 uncertain significance not provided 2015-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515326 SCV000611477 uncertain significance Benign familial neonatal seizures 2 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000187987 SCV000241590 likely benign not specified 2017-11-07 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.
Invitae RCV000647901 SCV000769707 benign Benign familial neonatal seizures 2017-12-27 criteria provided, single submitter clinical testing

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