Submissions for variant NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)

gnomAD frequency: 0.00016  dbSNP: rs375164626

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000641337	SCV000762978	benign	Nemaline myopathy 2	2024-10-18	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000641337	SCV001522215	uncertain significance	Nemaline myopathy 2	2019-04-18	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Athena Diagnostics	RCV001662690	SCV001879744	uncertain significance	not provided	2021-01-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002507092	SCV002815632	uncertain significance	Nemaline myopathy 2; Arthrogryposis multiplex congenita 6	2022-01-21	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001662690	SCV003812823	uncertain significance	not provided	2023-02-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001662690	SCV004025881	uncertain significance	not provided	2023-08-10	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27105866, 25214167, 34426522)
CeGaT Center for Human Genetics Tuebingen	RCV001662690	SCV004183773	uncertain significance	not provided	2023-11-01	criteria provided, single submitter	clinical testing	NEB: PM2, BP1, BP4
Natera, Inc.	RCV000641337	SCV001463537	uncertain significance	Nemaline myopathy 2	2020-09-16	no assertion criteria provided	clinical testing