ClinVar Miner

Submissions for variant NM_001277313.2(FMN1):c.2028G>A (p.Leu676=)

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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 RCV003885034 SCV004699959 benign not provided 2023-12-01 criteria provided, single submitter clinical testing FMN1: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003956647 SCV004767992 likely benign FMN1-related disorder 2019-03-07 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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