ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7899G>A (p.Glu2633=)

dbSNP: rs1597866857
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000920845 SCV001066225 likely benign Neurofibromatosis, type 1 2019-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434217 SCV001189326 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-04-13 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.
Genome-Nilou Lab RCV000920845 SCV002561335 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502796 SCV002804559 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-03-21 criteria provided, single submitter clinical testing

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