ClinVar Miner

Submissions for variant NM_153033.4(KCTD7):c.687T>C (p.Asp229=) (rs372150992)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186636 SCV000170007 benign not specified 2014-05-14 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724096 SCV000230465 uncertain significance not provided 2014-08-26 criteria provided, single submitter clinical testing
Invitae RCV000724096 SCV000646360 likely benign not provided 2018-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717269 SCV000848118 likely benign Seizures 2016-10-29 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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