Submissions for variant NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)

gnomAD frequency: 0.00706  dbSNP: rs112571971

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037095	SCV000060752	likely benign	not specified	2013-02-05	criteria provided, single submitter	clinical testing	Gly538Glu in Exon 11 of PDZD7: This variant is not expected to have clinical sig nificance because it has been identified in 1.6% (3/186) of Finnish individuals from a broad population by the 1000 Genomes Project (rs112571971).
Eurofins Ntd Llc (ga)	RCV000037095	SCV000334971	likely benign	not specified	2015-09-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000969791	SCV000531016	benign	not provided	2019-02-22	criteria provided, single submitter	clinical testing
Invitae	RCV000969791	SCV001117326	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000969791	SCV001144891	benign	not provided	2019-07-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000969791	SCV004127241	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	PDZD7: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003974876	SCV004798226	benign	PDZD7-related condition	2019-11-18	criteria provided, single submitter	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).