Submissions for variant NM_000268.4(NF2):c.1698C>T (p.Ser566=)

gnomAD frequency: 0.00005  dbSNP: rs751987156

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001087553	SCV000753856	likely benign	Neurofibromatosis, type 2	2024-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000842003	SCV000983995	likely benign	not provided	2018-04-10	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.
Ambry Genetics	RCV002404751	SCV002714241	likely benign	Hereditary cancer-predisposing syndrome	2019-11-26	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.
PreventionGenetics, part of Exact Sciences	RCV003928053	SCV004756429	likely benign	NF2-related condition	2019-05-29	criteria provided, single submitter	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).