ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3974+17C>G

dbSNP: rs975843462
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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 RCV001919220 SCV002193251 likely benign Neurofibromatosis, type 1 2024-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016856 SCV005646741 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-05-14 criteria provided, single submitter clinical testing

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