ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.912G>A (p.Val304=)

gnomAD frequency: 0.00001  dbSNP: rs746675755
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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 RCV000164568 SCV000215226 likely benign Hereditary cancer-predisposing syndrome 2014-07-01 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 RCV000858390 SCV000261065 likely benign not provided 2018-11-03 criteria provided, single submitter clinical testing
Invitae RCV001499616 SCV001704380 likely benign Ataxia-telangiectasia-like disorder 2021-01-05 criteria provided, single submitter clinical testing

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