ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.2433-1G>C

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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, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV003326091 SCV004032126 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-09-07 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing. Selected ACMG criteria: Likely pathogenic (I):PM2;PVS1

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