Submissions for variant NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)

gnomAD frequency: 0.00734  dbSNP: rs35707762

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117735	SCV000151986	benign	not specified	2016-06-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117735	SCV000307285	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000117735	SCV000341975	benign	not specified	2016-06-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000117735	SCV000526265	benign	not specified	2016-05-02	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	RCV001082377	SCV000640656	benign	Nemaline myopathy 2	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000542262	SCV001144712	benign	not provided	2019-02-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082377	SCV001289005	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	RCV000542262	SCV004154123	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	NEB: BP4, BS1, BS2
Ambry Genetics	RCV004019643	SCV004980066	likely benign	Inborn genetic diseases	2022-04-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV000542262	SCV005255853	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000542262	SCV001799380	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000117735	SCV001927394	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001082377	SCV002084102	likely benign	Nemaline myopathy 2	2019-12-05	no assertion criteria provided	clinical testing