ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.263+3_263+18dup

dbSNP: rs55712755
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318007 SCV000849591 likely benign Inborn genetic diseases 2018-02-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067042 SCV002419454 likely benign Syndromic X-linked intellectual disability 14 2024-01-25 criteria provided, single submitter clinical testing

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