ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.240del (p.Phe80fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Bochum, Ruhr University Bochum RCV003887831 SCV004704516 likely pathogenic Syndromic X-linked intellectual disability 14 2023-08-18 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2_SUP

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