Submissions for variant NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn)

gnomAD frequency: 0.00946  dbSNP: rs117817123

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000547301	SCV000641807	benign	Vici syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000547301	SCV000743517	benign	Vici syndrome	2016-05-19	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000547301	SCV000744779	benign	Vici syndrome	2015-08-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001560978	SCV001783493	likely benign	not provided	2020-08-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001560978	SCV005215347	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572651	SCV001797352	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001560978	SCV001955667	likely benign	not provided		no assertion criteria provided	clinical testing