ClinVar Miner

Submissions for variant NM_001278689.2(EOGT):c.563A>T (p.Lys188Ile)

gnomAD frequency: 0.00908  dbSNP: rs116138787
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Total submissions: 2
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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 RCV000514821 SCV000609513 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000514821 SCV001820172 likely benign not provided 2020-09-26 criteria provided, single submitter clinical testing

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