Submissions for variant NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)

gnomAD frequency: 0.00312  dbSNP: rs114089598

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723686	SCV000113046	uncertain significance	not provided	2013-07-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310271	SCV000416998	uncertain significance	Nemaline Myopathy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000723686	SCV000513913	likely benign	not provided	2020-10-14	criteria provided, single submitter	clinical testing
Invitae	RCV000540565	SCV000640802	likely benign	Nemaline myopathy 2	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723686	SCV001152451	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NEB: BP4, BS2
Illumina Laboratory Services, Illumina	RCV000540565	SCV001289861	uncertain significance	Nemaline myopathy 2	2018-01-12	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000723686	SCV002541877	uncertain significance	not provided	2022-06-24	criteria provided, single submitter	clinical testing	BS1
PreventionGenetics, part of Exact Sciences	RCV004549519	SCV004779884	likely benign	NEB-related disorder	2023-03-08	criteria provided, single submitter	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).
Natera, Inc.	RCV000540565	SCV001462192	likely benign	Nemaline myopathy 2	2020-06-06	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000723686	SCV001799742	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000723686	SCV001927861	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723686	SCV001971637	likely benign	not provided		no assertion criteria provided	clinical testing