ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter)

dbSNP: rs1657533128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843843 SCV002103016 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2021-09-14 criteria provided, single submitter clinical testing PVS1, PM2, BS2_supporting
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001843843 SCV005874292 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2024-07-18 criteria provided, single submitter clinical testing PVS1, PM2

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