ClinVar Miner

Submissions for variant NM_001012759.3(CTU2):c.424T>C (p.Phe142Leu)

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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 RCV002922528 SCV003263481 likely benign not provided 2024-10-24 criteria provided, single submitter clinical testing
GeneDx RCV002922528 SCV003930778 uncertain significance not provided 2022-12-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003961221 SCV004774666 likely benign CTU2-related disorder 2023-05-31 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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