Submissions for variant NM_015100.4(POGZ):c.2789C>T (p.Pro930Leu)

dbSNP: rs145570114

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000905711	SCV001050304	likely benign	not provided	2018-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000905711	SCV001900031	benign	not provided	2020-02-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002434201	SCV002746108	likely benign	Inborn genetic diseases	2018-07-13	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.
Genome-Nilou Lab	RCV003338859	SCV004049797	likely benign	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551753	SCV004793853	likely benign	POGZ-related disorder	2023-09-29	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).