ClinVar Miner

Submissions for variant NM_205768.3(ZBTB18):c.753_754del (p.Ser252fs)

dbSNP: rs1698415634
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001281097 SCV001468567 pathogenic Intellectual disability, autosomal dominant 22 2020-10-29 criteria provided, single submitter clinical testing

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