ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6208_6210CAG[9] (p.Gln2075_Gln2076dup) (rs757160341)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200223 SCV000250584 likely benign not specified 2015-10-15 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 RCV000200223 SCV000342962 likely benign not specified 2016-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718604 SCV000849468 benign History of neurodevelopmental disorder 2017-04-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,Other strong data
Ambry Genetics RCV000718604 SCV000851843 uncertain significance History of neurodevelopmental disorder 2010-12-16 criteria provided, single submitter clinical testing
Invitae RCV000866438 SCV001007528 benign FG syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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