Submissions for variant NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu)

gnomAD frequency: 0.00348  dbSNP: rs118098246

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178837	SCV000231002	likely benign	not specified	2015-02-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000880900	SCV000514107	likely benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25133751)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000178837	SCV000966323	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Val191Glu in Exon 05 of PDZD7: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (63/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs118098246).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880900	SCV001024026	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000880900	SCV001144895	likely benign	not provided	2018-11-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000880900	SCV001746039	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	PDZD7: BS2
PreventionGenetics, part of Exact Sciences	RCV004553010	SCV004798293	benign	PDZD7-related disorder	2022-02-17	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).