ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.7245A>C (p.Ala2415=)

gnomAD frequency: 0.00001  dbSNP: rs1245397728
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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 RCV000932420 SCV001078102 likely benign Vici syndrome 2024-05-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903091 SCV004718722 likely benign EPG5-related disorder 2023-12-12 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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