ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)

gnomAD frequency: 0.00116  dbSNP: rs180869784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537911 SCV000629970 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-01-24 criteria provided, single submitter clinical testing
Counsyl RCV000673241 SCV000798422 uncertain significance GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-03-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003482247 SCV000809077 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing

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