ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.272-8del

dbSNP: rs557631650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001685119 SCV001904693 benign not provided 2021-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001685119 SCV002406815 benign not provided 2025-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941075 SCV004756309 likely benign EFTUD2-related disorder 2022-05-27 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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