ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) (rs16830192)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117737 SCV000269417 benign not specified 2014-11-26 criteria provided, single submitter clinical testing p.Gly6866Gly in exon 136 of NEB: This variant is not expected to have clinical s ignificance because it has been identified in 10.7% (421/3922) of African Americ an chromosomes by the NHLBI Exome Sequencing Project ( du/EVS/; dbSNP rs16830192).
PreventionGenetics,PreventionGenetics RCV000117737 SCV000307290 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277022 SCV000416860 likely benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000117737 SCV000523393 benign not specified 2016-03-14 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.
Invitae RCV000551125 SCV000640668 benign Nemaline myopathy 2 2017-08-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117737 SCV000151988 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.

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