ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.61-19T>C

gnomAD frequency: 0.00025  dbSNP: rs185325140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002143334 SCV002453394 likely benign Neurofibromatosis, type 1 2021-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486962 SCV002799249 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-11-30 criteria provided, single submitter clinical testing

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