Submissions for variant NM_001042492.3(NF1):c.4577+11C>G

gnomAD frequency: 0.00124  dbSNP: rs190614908

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215673	SCV000270621	likely benign	not specified	2015-10-13	criteria provided, single submitter	clinical testing	c.4577+11C>G in intron 34 of NF1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 0.12% (83/66726) of European American chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs190614908).
PreventionGenetics, part of Exact Sciences	RCV000215673	SCV000306268	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000679391	SCV000527010	likely benign	not provided	2017-07-28	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660058	SCV000782025	likely benign	Neurofibromatosis, type 1	2016-11-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000215673	SCV002071833	likely benign	not specified	2019-04-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000660058	SCV002412761	benign	Neurofibromatosis, type 1	2024-02-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256124	SCV002527576	benign	Hereditary cancer-predisposing syndrome	2021-07-12	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000660058	SCV002560749	benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316193	SCV004016424	likely benign	Neurofibromatosis, familial spinal	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000679391	SCV004142545	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	NF1: BS1
Ambry Genetics	RCV004558464	SCV005048820	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2015-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000679391	SCV001808844	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000215673	SCV001964419	benign	not specified		no assertion criteria provided	clinical testing