Submissions for variant NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)

dbSNP: rs766135206

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000632362	SCV000753540	likely benign	Neurofibromatosis, type 1	2023-11-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431868	SCV001189223	benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2023-01-10	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Sema4, Sema4	RCV001026778	SCV002528120	uncertain significance	Hereditary cancer-predisposing syndrome	2022-02-13	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000632362	SCV002561136	uncertain significance	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003129952	SCV003815868	uncertain significance	not provided	2021-08-02	criteria provided, single submitter	clinical testing