ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.586G>A (p.Gly196Ser)

gnomAD frequency: 0.00035  dbSNP: rs565743896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514674 SCV001722578 benign Vici syndrome 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948516 SCV004760692 likely benign EPG5-related disorder 2023-09-18 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).

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