Submissions for variant NM_001042492.3(NF1):c.7449T>C (p.Pro2483=)

gnomAD frequency: 0.00001  dbSNP: rs878853916

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230378	SCV000284510	likely benign	Neurofibromatosis, type 1	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570248	SCV000662761	likely benign	Hereditary cancer-predisposing syndrome	2015-03-27	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.
GeneDx	RCV001582762	SCV001820607	likely benign	not provided	2018-11-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000230378	SCV002561294	likely benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001582762	SCV005432099	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	NF1: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV005238756	SCV005884810	likely benign	not specified	2024-12-06	criteria provided, single submitter	clinical testing