ClinVar Miner

Submissions for variant NM_001123383.1(BCOR):c.1779C>A (p.Ser593=) (rs17145652)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116493 SCV000306683 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000462756 SCV000563095 benign Oculofaciocardiodental syndrome 2018-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720987 SCV000851871 benign History of neurodevelopmental disorder 2014-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000828281 SCV000969965 benign not provided 2018-05-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000116493 SCV000150433 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.

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