ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.228C>T (p.Leu76=)

dbSNP: rs748605250
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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 RCV000164735 SCV000215407 likely benign Hereditary cancer-predisposing syndrome 2014-07-22 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 RCV001425983 SCV001628624 likely benign Ataxia-telangiectasia-like disorder 2021-06-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701773 SCV001928926 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701773 SCV001966513 likely benign not provided no assertion criteria provided clinical testing

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