ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1351del (p.Arg451fs)

dbSNP: rs1556377028
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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 RCV000578335 SCV000680427 pathogenic Syndromic X-linked intellectual disability 14 2017-11-08 criteria provided, single submitter clinical testing

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