Submissions for variant NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)

gnomAD frequency: 0.00430  dbSNP: rs182847302

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081116	SCV000113024	benign	not specified	2013-10-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081116	SCV000307279	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001084438	SCV000416884	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	RCV000712387	SCV000533973	benign	not provided	2018-06-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27641504)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084438	SCV000640642	benign	Nemaline myopathy 2	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712387	SCV000842864	benign	not provided	2017-10-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712387	SCV001152441	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	NEB: BP4, BP7, BS2
Natera, Inc.	RCV001084438	SCV001461658	likely benign	Nemaline myopathy 2	2019-11-11	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000712387	SCV001797489	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081116	SCV001932350	benign	not specified		no assertion criteria provided	clinical testing