ClinVar Miner

Submissions for variant NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val)

dbSNP: rs1850476947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001354046 SCV005016623 pathogenic Baralle-Macken syndrome 2024-03-14 criteria provided, single submitter clinical testing
UCL Queen Square Institute of Neurology, University College London RCV001290321 SCV001478272 likely pathogenic Cataract; Immunodeficiency; Microcephaly; Intellectual disability, severe no assertion criteria provided clinical testing
OMIM RCV001354046 SCV001548562 pathogenic Baralle-Macken syndrome 2021-04-09 no assertion criteria provided literature only

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