ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.2849dup (p.Val951fs)

dbSNP: rs1653560615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV001269299 SCV001448646 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2020-11-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001269299 SCV001527776 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2018-04-17 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001269299 SCV004049796 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing

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