ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6007-9_6007-7del

dbSNP: rs1274172088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001927622 SCV002163989 likely benign Neurofibromatosis, type 1 2024-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490165 SCV002796177 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-11-24 criteria provided, single submitter clinical testing

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