ClinVar Miner

Submissions for variant NM_001379451.1(BCORL1):c.3793C>T (p.Arg1265Cys)

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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 Bioinformatics RCV001281108 SCV001371838 likely pathogenic Intellectual disability 2020-07-09 criteria provided, single submitter case-control

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