ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6147C>T (p.Tyr2049=)

gnomAD frequency: 0.00017  dbSNP: rs371980254
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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 RCV000882415 SCV001025654 likely benign Vici syndrome 2024-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751781 SCV005352727 likely benign EPG5-related disorder 2024-08-14 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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