Submissions for variant NM_001042492.3(NF1):c.7190-33TTGT[7]

dbSNP: rs149197458

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000679407	SCV000806309	benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001194092	SCV001363366	benign	not specified	2023-03-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001290913	SCV001479201	likely benign	Neurofibromatosis, type 1	2020-10-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000679407	SCV001765352	likely benign	not provided	2022-03-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30308447, 34426522)
Sema4, Sema4	RCV002256464	SCV002530183	benign	Hereditary cancer-predisposing syndrome	2021-12-07	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV001290913	SCV002561267	benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Invitae	RCV001290913	SCV002972742	likely benign	Neurofibromatosis, type 1	2022-11-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000679407	SCV004142566	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	NF1: BP4, BS1, BS2