ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.648-20G>A

gnomAD frequency: 0.01436  dbSNP: rs2232368
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522420 SCV001731961 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001707873 SCV001936395 benign not provided 2021-05-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001522420 SCV003799520 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707873 SCV005277814 benign not provided criteria provided, single submitter not provided

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