ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) (rs1554336974)

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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 RCV000677708 SCV000803860 likely pathogenic Mirage syndrome 2016-11-01 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000677708 SCV001364302 pathogenic Mirage syndrome 2020-05-15 criteria provided, single submitter research ACMG codes: PS2, PS3, PM2, PP4

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