Submissions for variant NM_020964.3(EPG5):c.800C>T (p.Ser267Leu)

gnomAD frequency: 0.00113  dbSNP: rs180913079

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000736055	SCV000864267	benign	not specified	2017-06-02	criteria provided, single submitter	clinical testing	BS1, BS2, BP1; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and is a missense alteration in a gene for which primarily truncating variants are known to cause disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000968293	SCV001115733	likely benign	Vici syndrome	2025-01-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001702836	SCV005215348	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702836	SCV001927282	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702836	SCV001974005	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003908062	SCV004720750	likely benign	EPG5-related disorder	2022-01-31	no assertion criteria provided	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).