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

dbSNP: rs1597866857

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000920845	SCV001066225	likely benign	Neurofibromatosis, type 1	2024-08-04	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: seen in unaffected individuals, 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