ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1105-26TATT[7]

dbSNP: rs398123537
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200154 SCV000252736 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000153229 SCV000594668 likely benign not specified 2016-03-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000200154 SCV002534212 benign Fanconi anemia 2020-09-29 criteria provided, single submitter curation
Ambry Genetics RCV002426730 SCV002743167 benign Inborn genetic diseases 2014-09-30 criteria provided, single submitter clinical testing This alteration is classified as 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.
Eurofins Ntd Llc (ga) RCV000153229 SCV000202703 benign not specified 2014-03-19 no assertion criteria provided clinical testing

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