ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1780A>G (p.Arg594Gly) (rs576878377)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130116 SCV000184947 likely benign Hereditary cancer-predisposing syndrome 2019-01-17 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
Invitae RCV000524522 SCV000253445 benign Ataxia-telangiectasia-like disorder 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248684 SCV000311119 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001112605 SCV001270281 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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