Submissions for variant NM_020964.3(EPG5):c.4039A>C (p.Asn1347His)

gnomAD frequency: 0.00405  dbSNP: rs144860976

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000210627	SCV000262912	uncertain significance	Inborn genetic diseases	2013-07-18	criteria provided, single submitter	clinical testing	There is insufficient or conflicting evidence for classification of this alteration.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000442384	SCV000511625	likely benign	not provided	2016-11-30	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082743	SCV000641822	benign	Vici syndrome	2025-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000442384	SCV000692936	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	EPG5: BP4, BS2
GeneDx	RCV000442384	SCV001841185	benign	not provided	2020-10-02	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573112	SCV001798485	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000442384	SCV001967159	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917859	SCV004731720	benign	EPG5-related disorder	2024-01-28	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).