ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.2199G>T (p.Thr733=)

dbSNP: rs140693978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194233 SCV000246787 uncertain significance not specified 2014-08-12 criteria provided, single submitter clinical testing
Invitae RCV000458663 SCV000563094 benign Oculofaciocardiodental syndrome 2022-01-12 criteria provided, single submitter clinical testing

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