ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2326-6T>G

dbSNP: rs1597713670
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genomics Laboratory, Department of Genetics UAB RCV001007714 SCV001167386 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, Medical University Innsbruck RCV001007714 SCV001250656 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001007714 SCV002561747 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV001007714 SCV002567807 pathogenic Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing

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