ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.10707G>A (p.Lys3569=) (rs6717213)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117777 SCV000521461 benign not specified 2016-02-18 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 RCV000117777 SCV000152037 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 RCV000353559 SCV000416942 likely benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117777 SCV000269407 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Lys3569Lys in exon 73 of NEB: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 19.7% (795/4026) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs6717213).
PreventionGenetics RCV000117777 SCV000307189 benign not specified criteria provided, single submitter clinical testing

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