ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.3126C>T (p.Pro1042=)

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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 RCV003415036 SCV004127374 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing FMN2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003980866 SCV004798666 likely benign FMN2-related disorder 2023-01-27 criteria provided, single submitter 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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