ClinVar Miner

Submissions for variant NM_021628.3(ALOXE3):c.365G>T (p.Cys122Phe)

gnomAD frequency: 0.00015  dbSNP: rs142479006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001457767 SCV001661573 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
GeneDx RCV001457767 SCV001991202 uncertain significance not provided 2019-05-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV003938819 SCV004750028 likely benign ALOXE3-related disorder 2022-05-17 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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