ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) (rs1569481124)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000757919 SCV000886429 likely pathogenic FG syndrome 2018-09-20 criteria provided, single submitter research

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