ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3493A>G (p.Ile1165Val)

gnomAD frequency: 0.00541  dbSNP: rs61744077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642224 SCV000763878 benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710175 SCV005250102 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003965362 SCV004779869 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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