ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del)

dbSNP: rs781861708
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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 RCV000974698 SCV001122542 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2024-01-23 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174438 SCV001337577 uncertain significance Monogenic diabetes 2018-11-16 criteria provided, single submitter research ACMG criteria: PM4 (nonframeshift), BS1(8 hemizygotes [7 in AA and 1 inSA] in gnomAD and 300 patients reported worldwide, but disease penetrance/variability even with same mutation; ESP shows 2 homozgotes in European American and 7 hemizygotes from all subjects=VUS
Genetic Services Laboratory, University of Chicago RCV001819145 SCV002072247 likely benign not specified 2020-11-10 criteria provided, single submitter clinical testing

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