ClinVar Miner

Submissions for variant NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter)

gnomAD frequency: 0.00908  dbSNP: rs116711473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514625 SCV000609607 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078585 SCV001121865 benign Adams-Oliver syndrome 4 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000514625 SCV001830556 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31724708, 28600779, 30290772)
CeGaT Center for Human Genetics Tuebingen RCV000514625 SCV004150457 benign not provided 2023-10-01 criteria provided, single submitter clinical testing EOGT: BS1, BS2

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