Submissions for variant NM_001164508.2(NEB):c.3468C>T (p.Val1156=)

gnomAD frequency: 0.00051  dbSNP: rs373258662

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000502944	SCV000595954	uncertain significance	not specified	2016-06-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000641454	SCV000763095	likely benign	Nemaline myopathy 2	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001755745	SCV001996329	uncertain significance	not provided	2019-10-16	criteria provided, single submitter	clinical testing	In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity	RCV001755745	SCV003810185	uncertain significance	not provided	2022-10-26	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000641454	SCV001452171	uncertain significance	Nemaline myopathy 2	2020-01-17	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551631	SCV004773648	likely benign	NEB-related disorder	2023-02-06	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).