ClinVar Miner

Submissions for variant NM_005499.3(UBA2):c.649+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003885416 SCV004698086 pathogenic ACCES syndrome 2024-03-01 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PM2_SUP

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