ClinVar Miner

Submissions for variant NM_183075.3(CYP2U1):c.1584del (p.Phe528fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280011 SCV002568127 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing PVS1_Moderate, PM2
Undiagnosed Diseases Network, NIH RCV004799681 SCV005421002 likely pathogenic CYP2U1-related disorder 2024-07-15 criteria provided, single submitter clinical testing

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