Submissions for variant NM_001042492.3(NF1):c.5883G>A (p.Lys1961=)

gnomAD frequency: 0.00026  dbSNP: rs144808600

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164015	SCV000214620	likely benign	Hereditary cancer-predisposing syndrome	2014-12-15	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	RCV000229364	SCV000284484	benign	Neurofibromatosis, type 1	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001697061	SCV000718348	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000606337	SCV001448324	likely benign	not specified	2020-11-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000606337	SCV002071211	likely benign	not specified	2021-04-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164015	SCV002527631	benign	Hereditary cancer-predisposing syndrome	2022-01-01	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000229364	SCV002560853	benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004552882	SCV004734341	likely benign	NF1-related disorder	2019-05-31	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).