ClinVar Miner

Submissions for variant NM_173469.4(UBE2Q2):c.884+2293G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust RCV003326048 SCV003853440 uncertain significance Congenital dyserythropoietic anemia 2023-03-23 criteria provided, single submitter clinical testing

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