ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.204+12_204+13del (rs200301833)

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Total submissions: 2
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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 RCV000227345 SCV000288794 benign FG syndrome 1 2019-12-19 criteria provided, single submitter clinical testing

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