Submissions for variant NM_001042492.3(NF1):c.6819+11C>T

gnomAD frequency: 0.00002  dbSNP: rs201213225

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001574372	SCV001801183	likely benign	not provided	2020-10-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32575496, 31766501)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002072251	SCV002416436	benign	Neurofibromatosis, type 1	2024-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001574372	SCV002498268	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	NF1: BS1:Supporting
Sema4, Sema4	RCV002259141	SCV002527670	likely benign	Hereditary cancer-predisposing syndrome	2020-11-09	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV002072251	SCV002561240	benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002368596	SCV002661595	benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2022-08-10	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224572	SCV003920277	benign	Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis	2022-04-29	criteria provided, single submitter	clinical testing	This variant has been reported in the literature in 2 individuals with a clinical suspicion of neurofibromatosis type 1 (Bianchessi 2020 PMID:32575496). This variant is present in the Genome Aggregation Database at a frequency incompatible with disease incidence (Highest MAF: 1.1% (21/19952) https://gnomad.broadinstitute.org/variant/17-29665168-C-T?dataset=gnomad_r2_1). This variant is present in ClinVar, with multiple laboratories classifying it as benign or likely benign (Variation ID:1206652). This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, this variant is not expected to cause disease and is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004699425	SCV005204334	likely benign	not specified	2024-06-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551927	SCV004716853	likely benign	NF1-related disorder	2021-04-12	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).