ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7970+16T>G

gnomAD frequency: 0.00001  dbSNP: rs967311672
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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 RCV002081768 SCV002427013 likely benign Neurofibromatosis, type 1 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500109 SCV002804542 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-03-19 criteria provided, single submitter clinical testing

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