ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.6807+6T>G (rs10930723)

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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 RCV000117771 SCV000203077 benign not specified 2013-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000117771 SCV000519523 benign not specified 2016-01-05 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 RCV000117771 SCV000152028 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 RCV000335316 SCV000416973 benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586955 SCV000697836 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.6807+6T>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 28501/83546 control chromosomes (5084 homozygotes) at a frequency of 0.3411414, which is approximately 96 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), evidence that this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117771 SCV000269435 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.6807+6T>G in intron 51 of NEB: This variant is not expected to have clinical s ignificance because it has been identified in 43.1% (1543/3582) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs10930723).
PreventionGenetics RCV000117771 SCV000307384 benign not specified criteria provided, single submitter clinical testing

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