ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile)

gnomAD frequency: 0.00003  dbSNP: rs201833722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064520 SCV002401427 benign Syndromic X-linked intellectual disability 14 2024-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169123 SCV003862993 likely benign Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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