ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.4219C>A (p.Leu1407Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330273 SCV004037311 likely benign Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-08-17 criteria provided, single submitter clinical testing PM2_SUP, BS2, BP4_MOD (based on REVEL score interpretation of PMID 36413997)

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