ClinVar Miner

Submissions for variant NM_001287737.2(SETSIP):c.648G>A (p.Glu216=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV002286449 SCV002576365 pathogenic Intellectual disability, autosomal dominant 58 criteria provided, single submitter clinical testing

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