ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys)

gnomAD frequency: 0.00002  dbSNP: rs202120461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117596 SCV000151823 uncertain significance not provided 2013-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000117596 SCV000982636 likely benign not provided 2018-03-26 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 RCV003761748 SCV002349017 benign FG syndrome 2023-03-24 criteria provided, single submitter clinical testing

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