ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=)

gnomAD frequency: 0.00011  dbSNP: rs753786462
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193769 SCV000246792 uncertain significance not specified 2014-09-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726646 SCV000701935 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV002054257 SCV002448026 benign Oculofaciocardiodental syndrome 2023-07-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907677 SCV004726499 likely benign BCOR-related condition 2019-02-22 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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