Submissions for variant NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro)

dbSNP: rs201072996

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000953910	SCV001100508	likely benign	Nemaline myopathy 2	2024-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001593148	SCV001814898	uncertain significance	not provided	2022-10-31	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002548258	SCV003739580	uncertain significance	Inborn genetic diseases	2022-07-20	criteria provided, single submitter	clinical testing	The c.12578T>C (p.L4193P) alteration is located in exon 85 (coding exon 83) of the NEB gene. This alteration results from a T to C substitution at nucleotide position 12578, causing the leucine (L) at amino acid position 4193 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001593148	SCV003810173	uncertain significance	not provided	2021-10-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553416	SCV004742543	likely benign	NEB-related disorder	2022-10-24	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).