ClinVar Miner

Submissions for variant NM_205768.3(ZBTB18):c.550del (p.Asp184fs)

dbSNP: rs2148556437
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001771787 SCV002011718 pathogenic Intellectual disability, autosomal dominant 22 2021-09-24 no assertion criteria provided clinical testing

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