ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.3378C>T (p.His1126=)

gnomAD frequency: 0.00030  dbSNP: rs137923016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861229 SCV001001486 benign Oculofaciocardiodental syndrome 2023-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437446 SCV004164838 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing BCOR: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003965635 SCV004776686 likely benign BCOR-related condition 2021-02-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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