Submissions for variant NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)

gnomAD frequency: 0.00336  dbSNP: rs144180493

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000219306	SCV000230687	likely benign	not specified	2016-10-07	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219306	SCV000270605	likely benign	not specified	2016-03-03	criteria provided, single submitter	clinical testing	p.Met1852Arg in exon 45 of NEB: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (332/66652) of European chromo somes, including two homozygotes by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs144180493).
PreventionGenetics, part of Exact Sciences	RCV000219306	SCV000307364	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082591	SCV000416989	uncertain significance	Nemaline myopathy 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000219306	SCV000516539	likely benign	not specified	2018-02-16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082591	SCV000640816	benign	Nemaline myopathy 2	2025-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000534958	SCV001152449	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	NEB: BS2
Natera, Inc.	RCV001082591	SCV001462178	likely benign	Nemaline myopathy 2	2020-05-30	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000534958	SCV001798686	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000534958	SCV001926939	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000534958	SCV001974868	likely benign	not provided		no assertion criteria provided	clinical testing