ClinVar Miner

Submissions for variant NM_022893.4(BCL11A):c.370C>T (p.Gln124Ter)

dbSNP: rs1670131098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268670 SCV001447764 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796400 SCV005418459 likely pathogenic Dias-Logan syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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