ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7974_7977delinsAAA (p.His2658fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005010195 SCV005639982 likely pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-06-20 criteria provided, single submitter clinical testing

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