ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.33C>T (p.Asn11=)

gnomAD frequency: 0.00001  dbSNP: rs746088302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571349 SCV000662169 likely benign Hereditary cancer-predisposing syndrome 2016-06-17 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 RCV001446965 SCV001650020 likely benign Ataxia-telangiectasia-like disorder 2019-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571349 SCV002538424 likely benign Hereditary cancer-predisposing syndrome 2022-01-06 criteria provided, single submitter curation

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