ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.432A>G (p.Leu144=)

gnomAD frequency: 0.00001  dbSNP: rs370709772
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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 RCV000163816 SCV000214400 likely benign Hereditary cancer-predisposing syndrome 2015-10-21 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 RCV000859319 SCV000260722 likely benign Ataxia-telangiectasia-like disorder 2019-10-29 criteria provided, single submitter clinical testing

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