ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) (rs61730780)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081140 SCV000113048 benign not specified 2013-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000081140 SCV000519518 benign not specified 2016-03-18 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.
Genetic Services Laboratory, University of Chicago RCV000081140 SCV000152029 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000387404 SCV000416968 likely benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537691 SCV000640856 benign Nemaline myopathy 2 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081140 SCV000711690 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Arg2437Gln in exon 54 of NEB: This variant is not expected to have clinical si gnificance because it has been identified in 18.3% (22/120) of Colombian chromos omes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.ni h.gov/projects/SNP; dbSNP rs61730780).
PreventionGenetics RCV000081140 SCV000307387 benign not specified criteria provided, single submitter clinical testing

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