ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.2840C>T (p.Pro947Leu)

dbSNP: rs201741828
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202812 SCV000258147 benign not specified 2015-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884402 SCV004700229 benign not provided 2023-12-01 criteria provided, single submitter clinical testing FMN2: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003927870 SCV004740892 likely benign FMN2-related disorder 2019-10-24 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).
Breakthrough Genomics, Breakthrough Genomics RCV003884402 SCV005283025 benign not provided criteria provided, single submitter not provided

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