ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup) (rs757160341)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253558 SCV000320062 benign Cardiovascular phenotype 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Ambry Genetics RCV000721006 SCV000851890 benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153024 SCV000202469 benign not specified 2014-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000153024 SCV000565122 likely benign not specified 2018-03-06 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.
Genetic Services Laboratory, University of Chicago RCV000153024 SCV000248023 likely benign not specified 2014-06-05 criteria provided, single submitter clinical testing
Invitae RCV000633697 SCV000754964 benign FG syndrome 2017-12-09 criteria provided, single submitter clinical testing

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