ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.285C>T (p.Asn95=) (rs558966732)

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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 RCV000726263 SCV000343258 uncertain significance not provided 2016-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000376834 SCV000532334 likely benign not specified 2016-09-29 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 RCV000726263 SCV001004946 likely benign not provided 2018-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726263 SCV001476654 likely benign not provided 2020-06-09 criteria provided, single submitter clinical testing
Invitae RCV001435318 SCV001638137 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-11-03 criteria provided, single submitter clinical testing

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