ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5583C>T (p.Cys1861=)

gnomAD frequency: 0.00384  dbSNP: rs200372908
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001552551 SCV005215333 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV001552551 SCV004143035 likely benign not provided 2026-01-01 criteria provided, single submitter clinical testing EPG5: BP4, BP7
GeneDx RCV001552551 SCV001773257 likely benign not provided 2020-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000553319 SCV000641828 benign Vici syndrome 2026-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960328 SCV004769230 benign EPG5-related disorder 2019-07-26 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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