Submissions for variant NM_001042492.3(NF1):c.5961G>A (p.Gln1987=)

gnomAD frequency: 0.00006  dbSNP: rs757536610

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000167025	SCV000217848	likely benign	Hereditary cancer-predisposing syndrome	2014-11-26	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204553	SCV000259821	likely benign	Neurofibromatosis, type 1	2025-01-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000781664	SCV000919879	likely benign	not specified	2024-12-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001589041	SCV001827101	likely benign	not provided	2021-08-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000781664	SCV002069597	uncertain significance	not specified	2019-08-23	criteria provided, single submitter	clinical testing