ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1511-4G>A (rs368480443)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000828027 SCV000563652 likely benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716685 SCV000847527 uncertain significance Seizures 2016-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000828027 SCV000969703 likely benign not provided 2018-06-05 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.

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