Submissions for variant NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)

gnomAD frequency: 0.00058  dbSNP: rs17881753

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000130295	SCV000185143	likely benign	Hereditary cancer-predisposing syndrome	2015-11-13	criteria provided, single submitter	clinical testing	In silico models in agreement (benign);Other data supporting benign classification
Labcorp Genetics (formerly Invitae), Labcorp	RCV000200179	SCV000255278	benign	Neurofibromatosis, type 1	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000034581	SCV000723408	likely benign	not provided	2021-09-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327, 22703879, 27322474)
Mendelics	RCV003492330	SCV000839136	likely benign	Hereditary cancer	2024-01-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000121631	SCV002066628	benign	not specified	2019-07-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121631	SCV002511459	likely benign	not specified	2022-04-08	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000130295	SCV002527443	benign	Hereditary cancer-predisposing syndrome	2021-04-02	criteria provided, single submitter	curation
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000130295	SCV002819146	uncertain significance	Hereditary cancer-predisposing syndrome	2022-05-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000034581	SCV004142535	benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	NF1: BS1, BS2
Ambry Genetics	RCV004558286	SCV005047561	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2019-04-04	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.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034581	SCV000043387	variant of unknown significance	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Uncertain significance.
ITMI	RCV000121631	SCV000085829	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000034581	SCV001744601	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000121631	SCV001966080	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549401	SCV004738403	likely benign	NF1-related disorder	2019-04-11	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).