Submissions for variant NM_001042492.3(NF1):c.6315C>T (p.His2105=)

gnomAD frequency: 0.00005  dbSNP: rs145732909

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166583	SCV000217385	likely benign	Hereditary cancer-predisposing syndrome	2014-11-02	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	RCV000200361	SCV000253223	likely benign	Neurofibromatosis, type 1	2023-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001562934	SCV001785781	likely benign	not provided	2020-11-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000200361	SCV002561205	likely benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002485033	SCV002802355	likely benign	Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis	2022-01-01	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316055	SCV004016437	likely benign	Neurofibromatosis, familial spinal	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001562934	SCV004033553	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	NF1: BP4, BP7