ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.3711G>A (p.Val1237=)

gnomAD frequency: 0.00005  dbSNP: rs753256966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180342 SCV000232755 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV001089286 SCV001001454 likely benign Oculofaciocardiodental syndrome 2023-01-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818443 SCV002069418 likely benign not specified 2018-08-01 criteria provided, single submitter clinical testing

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