Submissions for variant NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr)

gnomAD frequency: 0.00005  dbSNP: rs758893131

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166293	SCV000217076	likely benign	Hereditary cancer-predisposing syndrome	2019-12-11	criteria provided, single submitter	clinical testing	in silico models in agreement (benign);Insufficient or Conflicting Evidence;Other strong data supporting benign classification
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232549	SCV000284405	benign	Neurofibromatosis, type 1	2025-01-23	criteria provided, single submitter	clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000232549	SCV000692344	likely benign	Neurofibromatosis, type 1	2017-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001564267	SCV001787407	likely benign	not provided	2020-05-05	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000166293	SCV002527451	uncertain significance	Hereditary cancer-predisposing syndrome	2021-04-08	criteria provided, single submitter	curation
Ambry Genetics	RCV002426798	SCV002730167	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2018-06-06	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.
CeGaT Center for Human Genetics Tuebingen	RCV001564267	SCV004009771	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	NF1: BP4