Submissions for variant NM_001042492.3(NF1):c.2142T>C (p.Cys714=)

dbSNP: rs141382637

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002317750	SCV000666793	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2016-11-18	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	RCV000681354	SCV000808817	likely benign	not provided	2018-06-11	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	RCV001471874	SCV001675993	likely benign	Neurofibromatosis, type 1	2025-01-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001471874	SCV002561732	likely benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing