ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1783+7A>G

gnomAD frequency: 0.00004  dbSNP: rs774520952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000859063 SCV000260306 likely benign Ataxia-telangiectasia-like disorder 2021-09-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000368990 SCV000374926 uncertain significance Ataxia-telangiectasia-like disorder 1 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneKor MSA RCV000708710 SCV000822030 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000708710 SCV002538407 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-27 criteria provided, single submitter curation

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