ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.739dup (p.His247fs)

dbSNP: rs786203931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167449 SCV000218305 pathogenic Hereditary cancer-predisposing syndrome 2014-12-31 criteria provided, single submitter clinical testing The c.739dupC pathogenic mutation, located in coding exon 7 of the MRE11A gene, results from a duplication of C at nucleotide position 739, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV002228994 SCV000642137 pathogenic Ataxia-telangiectasia-like disorder 2021-08-31 criteria provided, single submitter clinical testing

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