ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp)

gnomAD frequency: 0.00464  dbSNP: rs147332381
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085801 SCV001015747 benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675679 SCV001371678 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing GLB1: BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805797 SCV002050883 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675679 SCV000801387 likely benign not provided 2017-08-09 no assertion criteria provided clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252005 SCV001427751 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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