ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)

dbSNP: rs1602299778
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824877 SCV000965786 likely pathogenic FG syndrome 1 2016-01-04 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV002279965 SCV002568832 likely pathogenic not provided criteria provided, single submitter clinical testing

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