ClinVar Miner

Submissions for variant NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr)

gnomAD frequency: 0.00003  dbSNP: rs761960636
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
Revvity Omics, Revvity RCV003489851 SCV004237477 uncertain significance not provided 2022-01-02 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000736191 SCV000864488 likely pathogenic Short stature 2001-11-18 no assertion criteria provided case-control

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