Submissions for variant NM_000268.4(NF2):c.1206C>T (p.Ala402=)

gnomAD frequency: 0.00009  dbSNP: rs137953976

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000572581	SCV000674141	likely benign	Hereditary cancer-predisposing syndrome	2017-08-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000632662	SCV000753848	likely benign	Neurofibromatosis, type 2	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001726250	SCV001962433	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	NF2: BP4, BP7
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000632662	SCV004016463	likely benign	Neurofibromatosis, type 2	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320476	SCV004024676	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing