ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.2428C>T (p.Arg810Ter)

dbSNP: rs1555918056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623957 SCV000741402 pathogenic Inborn genetic diseases 2018-01-19 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268351 SCV001447213 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268351 SCV005201419 pathogenic not provided 2023-12-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 19367324, 29974297)

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