Submissions for variant NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn)

gnomAD frequency: 0.00028  dbSNP: rs200945025

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000524579	SCV000640695	benign	Nemaline myopathy 2	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001565890	SCV001789327	likely benign	not provided	2019-08-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002525300	SCV003747281	uncertain significance	Inborn genetic diseases	2022-05-05	criteria provided, single submitter	clinical testing	The c.16735G>A (p.D5579N) alteration is located in exon 120 (coding exon 118) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 16735, causing the aspartic acid (D) at amino acid position 5579 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001565890	SCV003814131	uncertain significance	not provided	2020-06-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553210	SCV004795458	likely benign	NEB-related disorder	2020-10-13	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).