ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.37T>A (p.Phe13Ile) (rs149101834)

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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 RCV000129638 SCV000184433 benign Hereditary cancer-predisposing syndrome 2015-11-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene,Other data supporting benign classification,In silico models in agreement (benign)
Invitae RCV000524531 SCV000260998 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780432 SCV000917678 benign not specified 2017-10-13 criteria provided, single submitter clinical testing Variant summary: The MRE11A c.37T>A (p.Phe13Ile) variant located in the calcineurin-like phosphoesterase domain (via InterPro) involves the alteration of a conserved nucleotide and 3/5 in silico tools predict a benign outcome for this variant. However, these predictions have yet to be functionally assessed. This variant was found in 96/273540 control chromosomes at a frequency of 0.000351, which is approximately 6 times the estimated maximal expected allele frequency of a pathogenic MRE11A variant (0.0000625), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign.
Athena Diagnostics Inc RCV000524531 SCV001144543 benign not provided 2019-03-20 criteria provided, single submitter clinical testing

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