Submissions for variant NM_001042492.3(NF1):c.1641+39T>C

gnomAD frequency: 0.52895  dbSNP: rs2905880

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251277	SCV000306239	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000251277	SCV000604470	benign	not specified	2018-07-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000680767	SCV000808211	benign	not provided	2018-06-20	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.
Genome-Nilou Lab	RCV001782739	SCV002026734	benign	Neurofibromatosis, type 1	2021-09-05	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316359	SCV004016065	benign	Neurofibromatosis, familial spinal	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000680767	SCV005253766	benign	not provided		criteria provided, single submitter	not provided