ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.204+12_204+13del

dbSNP: rs200301833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197184 SCV000250571 benign not specified 2015-03-03 criteria provided, single submitter clinical testing This variant was found in TAAD,TAADV2-1
Invitae RCV003761814 SCV000288794 benign FG syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000197184 SCV002066129 benign not specified 2017-07-25 criteria provided, single submitter clinical testing

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