Submissions for variant NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)

gnomAD frequency: 0.00681  dbSNP: rs187343008

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081135	SCV000113043	benign	not specified	2013-03-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081135	SCV000248157	benign	not specified	2014-04-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081135	SCV000307342	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000081135	SCV000515940	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	RCV000547440	SCV000614176	benign	not provided	2019-05-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083667	SCV000640774	benign	Nemaline myopathy 2	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083667	SCV001290732	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	RCV000547440	SCV004147014	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	NEB: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000547440	SCV005256337	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000547440	SCV001798311	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081135	SCV001927743	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001083667	SCV002077755	likely benign	Nemaline myopathy 2	2019-12-05	no assertion criteria provided	clinical testing