ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1561= (p.Cys521=)

gnomAD frequency: 0.06888  dbSNP: rs4302331
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
PreventionGenetics, part of Exact Sciences RCV000252845 SCV000304044 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000548417 SCV000629971 benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2025-02-02 criteria provided, single submitter clinical testing

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