ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1136G>A (p.Arg379His)

gnomAD frequency: 0.00011  dbSNP: rs140032597
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002120012 SCV002402056 likely benign Syndromic X-linked intellectual disability 14 2024-01-07 criteria provided, single submitter clinical testing
Mendelics RCV002246676 SCV002516140 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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