ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3373-1G>A

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003883397 SCV004697824 likely pathogenic Genitopatellar syndrome 2024-03-01 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV004759337 SCV005368698 likely pathogenic KAT6B-related disorder 2023-12-19 no assertion criteria provided clinical testing

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