Submissions for variant NM_001042492.3(NF1):c.6528T>C (p.Ile2176=)

gnomAD frequency: 0.00005  dbSNP: rs147522129

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163930	SCV000214526	likely benign	Hereditary cancer-predisposing syndrome	2014-07-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000462453	SCV000554980	likely benign	Neurofibromatosis, type 1	2025-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001697156	SCV000715892	likely benign	not provided	2021-06-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001697156	SCV002049235	likely benign	not provided	2020-12-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000462453	SCV002561219	likely benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316012	SCV004016417	likely benign	Neurofibromatosis, familial spinal	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004737257	SCV005354264	likely benign	NF1-related disorder	2024-08-24	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).