ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.403-6G>A (rs535801)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117634 SCV000151866 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 RCV000277270 SCV000374944 benign Ataxia-telangiectasia-like disorder 1 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590098 SCV000698608 benign not provided 2016-05-06 criteria provided, single submitter clinical testing Variant summary: The c.403-6G>A variant affects a non-conserved intronic nucleotide. MutationTaster tool predicts benign outcome for this variant. 5/5 splice-tools in Alamut predict that this variant does not affect normal splicing. This variant is found in 39196/120518 control chromosomes (including 6588 homozygotes) from ExAC at a frequency of 0.3252294, which is about 5204 times greater than the maximal expected frequency of a pathogenic allele (0.0000625), suggesting this variant is a common benign polymorphism. One clinical laboratory has classified this variant as likely benign. Taken together, this variant has been classified as Benign.
Invitae RCV000277270 SCV000642135 benign Ataxia-telangiectasia-like disorder 1 2017-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117634 SCV000539672 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
PreventionGenetics RCV000117634 SCV000311121 benign not specified criteria provided, single submitter clinical testing

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