ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.108del (p.Phe36fs)

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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 RCV003326025 SCV003853393 pathogenic Combined oxidative phosphorylation defect type 11 2023-03-23 criteria provided, single submitter clinical testing

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