ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.647_649dup (p.Ser217Ter)

dbSNP: rs2139419099
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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 RCV001375979 SCV001572975 pathogenic Intellectual disability, autosomal dominant 40 2019-12-05 criteria provided, single submitter clinical testing

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