ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.1260T>C (p.Asp420=)

gnomAD frequency: 0.91469  dbSNP: rs5917933
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081809 SCV000113744 benign not specified 2014-03-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081809 SCV000306681 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000607441 SCV001717163 benign Oculofaciocardiodental syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000607441 SCV001775208 benign Oculofaciocardiodental syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001647061 SCV001857462 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433591 SCV002678733 benign Inborn genetic diseases 2015-06-22 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genetic Services Laboratory, University of Chicago RCV000081809 SCV000150430 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607441 SCV000734781 benign Oculofaciocardiodental syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081809 SCV001927035 benign not specified no assertion criteria provided clinical testing

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