ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.1696C>T (p.Arg566Cys)

dbSNP: rs1935607481
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253540 SCV001429306 uncertain significance Oculofaciocardiodental syndrome 2019-03-08 criteria provided, single submitter clinical testing

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