Submissions for variant NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile)

gnomAD frequency: 0.00672  dbSNP: rs184262608

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081139	SCV000113047	benign	not specified	2013-03-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081139	SCV000307375	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000081139	SCV000515941	benign	not specified	2016-08-03	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.
Athena Diagnostics	RCV000537163	SCV000614181	benign	not provided	2019-05-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079977	SCV000640833	benign	Nemaline myopathy 2	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001079977	SCV001294965	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000537163	SCV004154159	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	NEB: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000537163	SCV005255890	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001079977	SCV001453484	benign	Nemaline myopathy 2	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000537163	SCV001799885	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081139	SCV001930172	benign	not specified		no assertion criteria provided	clinical testing