ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1521G>A (p.Thr507=)

gnomAD frequency: 0.00011  dbSNP: rs374924493
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001460807 SCV001664687 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711651 SCV005258414 likely benign not provided criteria provided, single submitter not provided

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