ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.315-4del (rs35062043)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128995 SCV000172890 benign Hereditary cancer-predisposing syndrome 2013-08-05 criteria provided, single submitter clinical testing Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Counsyl RCV000411119 SCV000488537 benign Ataxia-telangiectasia-like disorder 1 2016-06-08 criteria provided, single submitter clinical testing
Invitae RCV001084852 SCV000558616 benign Ataxia-telangiectasia-like disorder 2020-02-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589770 SCV000698602 benign not provided 2016-05-06 criteria provided, single submitter clinical testing Variant summary: The MRE11A variant, c.315-4delT is located at a non-conserved intronic position with 4/5 splice-site algorithms via Alamut predict no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 3301/84106 (1/25), which significantly exceeds the estimated maximum expected allele frequency for a pathogenic MRE11A variant of 1/16000. In addition, a reputable clinical laboratory cites the variant as "benign." Therefore, the variant of interest is classified as Benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000411119 SCV000744082 likely benign Ataxia-telangiectasia-like disorder 1 2014-10-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000411119 SCV000746006 benign Ataxia-telangiectasia-like disorder 1 2016-10-21 criteria provided, single submitter clinical testing

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