ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.3974A>G (p.Lys1325Arg)

gnomAD frequency: 0.00027  dbSNP: rs187172641
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000120223 SCV000246790 benign not specified 2016-01-05 criteria provided, single submitter clinical testing
Invitae RCV000529058 SCV000640052 benign Oculofaciocardiodental syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371954 SCV002624565 benign Inborn genetic diseases 2021-11-08 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.
ITMI RCV000120223 SCV000084369 not provided not specified 2013-09-19 no assertion provided reference population

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