Submissions for variant NM_001042492.3(NF1):c.7092G>A (p.Arg2364=)

gnomAD frequency: 0.00001  dbSNP: rs762081710

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000220068	SCV000272947	likely benign	Hereditary cancer-predisposing syndrome	2015-12-11	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	RCV000875776	SCV001018250	likely benign	Neurofibromatosis, type 1	2023-12-31	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000220068	SCV002530179	likely benign	Hereditary cancer-predisposing syndrome	2021-06-03	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000875776	SCV002561260	likely benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002485412	SCV002795912	likely benign	Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis	2021-08-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547523	SCV004764861	likely benign	NF1-related disorder	2019-10-29	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).