ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.316-3del

dbSNP: rs782086170
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002219852 SCV002379539 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2024-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933351 SCV004751450 likely benign FOXP3-related disorder 2019-06-05 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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