Submissions for variant NM_001164508.2(NEB):c.24208-7C>T

gnomAD frequency: 0.00793  dbSNP: rs113048349

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223141	SCV000269421	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	24313-7C>T in intron 171 of NEB: This variant is not expected to have clinical s ignificance because it has been identified in 1.3% (42/3182) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs113048349).
PreventionGenetics, part of Exact Sciences	RCV000223141	SCV000307322	likely benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000223141	SCV000614174	benign	not specified	2017-06-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000527699	SCV000640738	benign	Nemaline myopathy 2	2025-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000223141	SCV000731042	benign	not specified	2017-01-31	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000223141	SCV002548175	benign	not specified	2022-05-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573799	SCV002822694	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	NEB: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001573799	SCV005255838	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000527699	SCV001459168	benign	Nemaline myopathy 2	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573799	SCV001800180	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000223141	SCV001932712	benign	not specified		no assertion criteria provided	clinical testing