ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1642-8A>G

dbSNP: rs267606602
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000190422 SCV000781922 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000190422 SCV002567806 pathogenic Neurofibromatosis, type 1 2022-08-17 criteria provided, single submitter clinical testing
OMIM RCV000000380 SCV000020524 pathogenic Juvenile myelomonocytic leukemia 1998-07-01 no assertion criteria provided literature only
OMIM RCV000190422 SCV000244264 pathogenic Neurofibromatosis, type 1 1998-07-01 no assertion criteria provided literature only

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