ClinVar Miner

Submissions for variant NM_153033.4(KCTD7):c.384G>A (p.Glu128=) (rs145238250)

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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 RCV000718106 SCV000848968 likely benign Seizures 2016-04-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Athena Diagnostics Inc RCV000126504 SCV000613898 likely benign not specified 2017-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000126504 SCV000170011 benign not specified 2014-05-20 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.
Illumina Clinical Services Laboratory,Illumina RCV000285988 SCV000469807 uncertain significance Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000557342 SCV000646353 benign Epilepsy, progressive myoclonic 3 2018-01-05 criteria provided, single submitter clinical testing

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