ClinVar Miner

Submissions for variant NM_001278689.2(EOGT):c.816C>T (p.Ile272=)

gnomAD frequency: 0.00011  dbSNP: rs554241529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949262 SCV001095512 benign Adams-Oliver syndrome 4 2024-12-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978190 SCV004788926 likely benign EOGT-related disorder 2022-11-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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