ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4835+14T>C

gnomAD frequency: 0.00004  dbSNP: rs758851307
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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 RCV002144348 SCV002468368 likely benign Neurofibromatosis, type 1 2023-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494472 SCV002803374 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-10-16 criteria provided, single submitter clinical testing

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