ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6148-16T>G

dbSNP: rs769223408
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UAB Medical Genomics Laboratory, UAB Medicine RCV001007719 SCV001167391 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467580 SCV004190742 uncertain significance Juvenile myelomonocytic leukemia 2023-05-03 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796345 SCV005418790 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PP4
Fulgent Genetics, Fulgent Genetics RCV004796345 SCV005639931 likely pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-04-18 criteria provided, single submitter clinical testing

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