ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met)

gnomAD frequency: 0.00012  dbSNP: rs200926094
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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 RCV000560030 SCV000641834 benign Vici syndrome 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000609518 SCV000728384 likely benign not specified 2017-08-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV003942805 SCV004762568 likely benign EPG5-related disorder 2019-10-30 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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