Submissions for variant NM_001042492.3(NF1):c.1846-12A>T

gnomAD frequency: 0.00124  dbSNP: rs188510882

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000507943	SCV000604493	benign	not specified	2016-09-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000507943	SCV000732283	likely benign	not specified	2018-01-11	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.
PreventionGenetics, part of Exact Sciences	RCV000679377	SCV000806259	likely benign	not provided	2014-02-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002056910	SCV002364122	benign	Neurofibromatosis, type 1	2025-02-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256326	SCV002527420	benign	Hereditary cancer-predisposing syndrome	2020-11-05	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV002056910	SCV002561013	benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing