ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3691+9dup

dbSNP: rs966516434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003770967 SCV001540661 benign FG syndrome 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985494 SCV004721696 likely benign MED12-related disorder 2020-06-18 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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