ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3279C>T (p.Ser1093=)

gnomAD frequency: 0.00844  dbSNP: rs72918350
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538325 SCV000641818 benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001562451 SCV001785214 likely benign not provided 2019-12-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001562451 SCV003918009 benign not provided 2023-11-01 criteria provided, single submitter clinical testing EPG5: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003915564 SCV004736039 benign EPG5-related condition 2019-05-08 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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