Submissions for variant NM_000268.4(NF2):c.240+15C>T

gnomAD frequency: 0.00014  dbSNP: rs200701337

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000393527	SCV000437747	likely benign	Neurofibromatosis, type 2	2018-02-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454565	SCV000539890	uncertain significance	not specified	2017-01-10	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MaxMAF 0.35% (572 chrs). Frequency high for disorder. Seen in 2 papers, in 2 sporadic cases. Not in ClinVar.
GeneDx	RCV000835591	SCV000977385	likely benign	not provided	2018-05-23	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000393527	SCV001728977	benign	Neurofibromatosis, type 2	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000393527	SCV002045395	benign	Neurofibromatosis, type 2	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000835591	SCV005042197	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	NF2: BS2
PreventionGenetics, part of Exact Sciences	RCV003969985	SCV004778871	likely benign	NF2-related disorder	2023-03-22	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).