ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.532+6T>A

gnomAD frequency: 0.00001  dbSNP: rs1320816826
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226918 SCV002505819 uncertain significance Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2021-08-01 criteria provided, single submitter clinical testing

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