ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.492T>C (p.Ile164=)

gnomAD frequency: 0.00005  dbSNP: rs764342779
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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 RCV000166917 SCV000217736 likely benign Hereditary cancer-predisposing syndrome 2015-11-19 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 RCV000873443 SCV001015438 likely benign Ataxia-telangiectasia-like disorder 2021-07-26 criteria provided, single submitter clinical testing

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