ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1509T>C (p.Asp503=)

dbSNP: rs1597698493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319157 SCV001172338 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-06-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV002068845 SCV002394733 likely benign Neurofibromatosis, type 1 2023-10-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002068845 SCV002560350 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497337 SCV002808793 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-12-08 criteria provided, single submitter clinical testing

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