ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.61-9T>C

gnomAD frequency: 0.00004  dbSNP: rs780956522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550804 SCV000628700 likely benign Neurofibromatosis, type 1 2025-01-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271524 SCV002555964 uncertain significance not specified 2022-06-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490967 SCV002798345 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-08-02 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316684 SCV004016441 likely benign Neurofibromatosis, familial spinal 2023-07-07 criteria provided, single submitter clinical testing

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