ClinVar Miner

Submissions for variant NR_002757.3(RNU5B-1):n.74T>C

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Total submissions: 2
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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 RCV004764403 SCV005373776 uncertain significance RNU5B-1-associated neurodevelopmental disorder 2024-10-09 criteria provided, single submitter literature only This variant was identified as de novo
Institute for Human Genetics, University Hospital Essen RCV005241568 SCV005889576 uncertain significance not provided 2005-03-05 criteria provided, single submitter clinical testing PM2_supp, PS2

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