ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1994+10G>A (rs1805366)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079590 SCV000262321 benign Ataxia-telangiectasia-like disorder 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298889 SCV000374922 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.
Counsyl RCV000298889 SCV000488656 benign Ataxia-telangiectasia-like disorder 1 2016-06-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586722 SCV000698606 benign not provided 2017-08-16 criteria provided, single submitter clinical testing Variant summary: c.1994+10G>A in MRE11A gene is an intronic change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.00317 (384/121126 chrs tested), predominantly in individuals of African descent (0.03533; 366/ 10360 chrs tested). The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant of 0.0000625, suggesting that it is a common polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports but is cited as Likely Benign/Benign by reputable databases/clinical laboratory. Taking together, the variant was classified as Benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000298889 SCV001472666 benign Ataxia-telangiectasia-like disorder 1 2019-09-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289102 SCV001476697 benign not specified 2020-06-25 criteria provided, single submitter clinical testing

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