ClinVar Miner

Submissions for variant NM_005591.4(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
PreventionGenetics,PreventionGenetics RCV000117634 SCV000311121 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277270 SCV000374944 benign Ataxia-telangiectasia-like disorder 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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
Invitae RCV001081363 SCV000642135 benign Ataxia-telangiectasia-like disorder 2019-12-31 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.
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.

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