ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.264-6C>T

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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 RCV002722945 SCV003560981 uncertain significance Inborn genetic diseases 2021-07-13 criteria provided, single submitter clinical testing The c.264-6C>T intronic alteration consists of a C to T substitution 6 nucleotides before exon 3 of the UPF3B gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003624501 SCV004509903 likely benign Syndromic X-linked intellectual disability 14 2023-04-24 criteria provided, single submitter clinical testing

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