ClinVar Miner

Submissions for variant NM_205768.3(ZBTB18):c.1473C>G (p.Tyr491Ter)

dbSNP: rs376898131
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001095656 SCV001251412 likely pathogenic Intellectual disability, autosomal dominant 22 2019-10-17 criteria provided, single submitter clinical testing

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