ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.18G>A (p.Lys6=)

gnomAD frequency: 0.00336  dbSNP: rs181345590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004710123 SCV005250126 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV000543536 SCV000641810 benign Vici syndrome 2025-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962524 SCV004777315 benign EPG5-related disorder 2023-02-07 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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