ClinVar Miner

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

gnomAD frequency: 0.00399  dbSNP: rs200372908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553319 SCV000641828 benign Vici syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001552551 SCV001773257 likely benign not provided 2020-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001552551 SCV004143035 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing EPG5: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003960328 SCV004769230 benign EPG5-related condition 2019-07-26 criteria provided, single submitter 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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