ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu)

gnomAD frequency: 0.00221  dbSNP: rs150801382
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499429 SCV000594846 uncertain significance not specified 2016-07-07 criteria provided, single submitter clinical testing
Invitae RCV000899884 SCV001044174 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336476 SCV001529869 uncertain significance Intellectual disability, autosomal recessive 47 2018-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002527252 SCV003680860 likely benign Inborn genetic diseases 2021-10-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000899884 SCV004699470 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935288 SCV004753708 likely benign FMN2-related condition 2023-01-21 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).
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264630 SCV001442909 likely benign Neurodevelopmental abnormality 2020-04-03 no assertion criteria provided clinical testing

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