Submissions for variant NM_001042492.3(NF1):c.7189+37C>G

gnomAD frequency: 0.88082  dbSNP: rs7405740

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250694	SCV000306288	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000250694	SCV000604484	benign	not specified	2018-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000680776	SCV000808220	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	RCV001782743	SCV002026742	benign	Neurofibromatosis, type 1	2021-09-05	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316370	SCV004016068	benign	Neurofibromatosis, familial spinal	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000680776	SCV005253795	benign	not provided		criteria provided, single submitter	not provided