Submissions for variant NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr)

gnomAD frequency: 0.00002  dbSNP: rs527563505

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000217933	SCV000275351	likely benign	Hereditary cancer-predisposing syndrome	2016-03-01	criteria provided, single submitter	clinical testing	In silico models in agreement (benign);Rarity in general population databases (dbsnp, esp, 1000 genomes);Subpopulation frequency in support of benign classification
Labcorp Genetics (formerly Invitae), Labcorp	RCV000459283	SCV000554951	likely benign	Neurofibromatosis, type 1	2025-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001564100	SCV001787205	likely benign	not provided	2020-02-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000217933	SCV002527428	benign	Hereditary cancer-predisposing syndrome	2022-02-02	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000459283	SCV002561068	benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004558515	SCV005047849	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2019-02-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000459283	SCV005880940	benign	Neurofibromatosis, type 1	2025-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547541	SCV004764795	likely benign	NF1-related disorder	2022-08-11	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).