ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.9833A>G (p.Lys3278Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003334325 SCV004042393 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing HUWE1: BS2
PreventionGenetics, part of Exact Sciences RCV004538947 SCV004711813 likely benign HUWE1-related disorder 2023-05-27 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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