ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.846-12T>C

gnomAD frequency: 0.00003  dbSNP: rs587780145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115924 SCV000149833 uncertain significance not provided 2013-12-11 criteria provided, single submitter clinical testing MRE11A has been only recently described in association with cancer predisposition and the risks are not well understood. This variant is denoted MRE11A IVS8-12T>C or c.846-12T>C and consists of a T>C nucleotide substitution at the -12 position of intron 8 of the MRE11A gene. Multiple in silico prediction programs predict this variant to weaken a nearby canonical acceptor site, and to possibly cause abnormal gene splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Based on the currently available information, we consider this variant to have unknown significance.
Invitae RCV002228253 SCV002509549 likely benign Ataxia-telangiectasia-like disorder 2021-08-27 criteria provided, single submitter clinical testing

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