Submissions for variant NM_020964.3(EPG5):c.3965G>A (p.Arg1322His)

gnomAD frequency: 0.00232  dbSNP: rs148641800

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000539107	SCV000641821	likely benign	Vici syndrome	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001572756	SCV001981929	uncertain significance	not provided	2021-09-08	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
CeGaT Center for Human Genetics Tuebingen	RCV001572756	SCV002585681	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	EPG5: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003960327	SCV004770233	likely benign	EPG5-related condition	2022-09-07	criteria provided, single submitter	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572756	SCV001797618	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572756	SCV001974010	uncertain significance	not provided		no assertion criteria provided	clinical testing