ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6384A>G (p.Gln2128=)

dbSNP: rs1569482811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003595726 SCV001413883 likely benign FG syndrome 2023-05-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985486 SCV004780401 likely benign MED12-related disorder 2023-07-18 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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