Submissions for variant NM_001042492.3(NF1):c.5280T>C (p.Thr1760=)

gnomAD frequency: 0.00001  dbSNP: rs779104728

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002315713	SCV000663133	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2016-08-15	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.
GeneDx	RCV000681159	SCV000808617	likely benign	not provided	2018-03-14	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001465391	SCV001669376	likely benign	Neurofibromatosis, type 1	2024-10-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821662	SCV002068124	likely benign	not specified	2020-04-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001465391	SCV002560813	likely benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316736	SCV004016452	likely benign	Neurofibromatosis, familial spinal	2023-07-07	criteria provided, single submitter	clinical testing