ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3351G>A (p.Gly1117=)

gnomAD frequency: 0.00002  dbSNP: rs371129822
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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 RCV002131229 SCV002452321 likely benign Vici syndrome 2024-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003971077 SCV004781255 likely benign EPG5-related disorder 2020-03-30 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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