ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3906T>C (p.Asp1302=)

dbSNP: rs549058591
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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 RCV000632578 SCV000753763 likely benign Neurofibromatosis, type 1 2017-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483788 SCV002800460 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-12-03 criteria provided, single submitter clinical testing

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