ClinVar Miner

Submissions for variant NM_001123383.1(BCOR):c.1260T>C (p.Asp420=) (rs5917933)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081809 SCV000113744 benign not specified 2014-03-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081809 SCV000306681 benign not specified criteria provided, single submitter clinical testing
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

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