ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.1132G>T (p.Glu378Ter) (rs864309531)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute RCV000202608 SCV000257561 pathogenic Schimke immunoosseous dysplasia 2015-12-15 criteria provided, single submitter research

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