ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1983C>T (p.Leu661=)

gnomAD frequency: 0.00001  dbSNP: rs747589996
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 RCV001417326 SCV001619526 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-05-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264306 SCV002544782 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing GLB1: BP4, BP7

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