ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4066_4067del (p.Glu1356fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797325 SCV005415904 pathogenic 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 PVS1+PS4_Supporting+PM2_Supporting+PP4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798992 SCV005420504 likely pathogenic Café-au-lait macules with pulmonary stenosis 2024-10-04 criteria provided, single submitter research PVS1,PM2

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