Submissions for variant NM_001042492.3(NF1):c.6558A>C (p.Ser2186=)

gnomAD frequency: 0.00001  dbSNP: rs753509749

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163978	SCV000214578	likely benign	Hereditary cancer-predisposing syndrome	2014-10-31	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	RCV000205407	SCV000260999	likely benign	Neurofibromatosis, type 1	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000607676	SCV000727565	likely benign	not specified	2018-02-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV000205407	SCV002561224	likely benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004552880	SCV004787310	likely benign	NF1-related disorder	2021-10-11	no assertion criteria provided	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).