ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.879G>A (p.Lys293=)

gnomAD frequency: 0.00002  dbSNP: rs772483607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000859122 SCV000288952 likely benign Ataxia-telangiectasia-like disorder 2024-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000229452 SCV000662182 likely benign Hereditary cancer-predisposing syndrome 2016-09-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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