ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5400+7G>A

gnomAD frequency: 0.00038  dbSNP: rs201254124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616430 SCV000728739 likely benign not specified 2017-08-28 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 RCV003762829 SCV001001111 benign FG syndrome 2023-12-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985396 SCV004754517 likely benign MED12-related disorder 2019-07-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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