ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.315-14dup (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 RCV000162501 SCV000212889 likely benign Hereditary cancer-predisposing syndrome 2013-06-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000162501 SCV000252798 benign Hereditary cancer-predisposing syndrome 2017-01-26 criteria provided, single submitter clinical testing
Counsyl RCV000410959 SCV000488540 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 RCV000588749 SCV000698607 benign not provided 2016-05-06 criteria provided, single submitter clinical testing Variant summary: The c.315-4dupT variant affects a non-conserved intronic nucleotide. MutationTaster predicts benign outcome for this variant. 5/5 splice-tools in Alamut predict that this variant does not affect normal splicing. This variant is found in 6069/84106 control chromosomes (including 57 homozygotes) from ExAC at a frequency of 0.0721589, which is about 1155 times greater than the maximal expected frequency of a pathogenic allele (0.0000625) in this gene, suggesting this variant is benign. In addition, two clinical laboratory/reputable database have classified this variant as benign/likely benign. Taken together, this variant has been classified as Benign.
Invitae RCV001081372 SCV001000503 benign Ataxia-telangiectasia-like disorder 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288239 SCV001475210 benign not specified 2019-11-01 criteria provided, single submitter clinical testing

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