Submissions for variant NM_015100.4(POGZ):c.4089T>G (p.His1363Gln)

gnomAD frequency: 0.00106  dbSNP: rs142860188

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515064	SCV000610163	likely benign	not provided	2017-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314896	SCV000848002	likely benign	Inborn genetic diseases	2018-01-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000515064	SCV001106750	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000515064	SCV001906606	benign	not provided	2019-06-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26942287, 26739615)
Genome-Nilou Lab	RCV003338624	SCV004049776	likely benign	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000515064	SCV004124627	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	POGZ: BP4, BS1
Center of Medical Genetics, Central South University	RCV000754506	SCV000803218	association	Autism spectrum disorder		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551650	SCV004778781	benign	POGZ-related disorder	2021-12-21	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).