ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs)

dbSNP: rs1567862349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761947 SCV000892174 likely pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485974 SCV002784566 likely pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-08-20 criteria provided, single submitter clinical testing

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