ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer)

dbSNP: rs1603371016
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995676 SCV001149981 pathogenic Syndromic X-linked intellectual disability 14 2018-01-25 criteria provided, single submitter clinical testing

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