ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.312G>A (p.Val104=)

gnomAD frequency: 0.00001  dbSNP: rs113901133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002178386 SCV002475971 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-09-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587321 SCV005076420 likely benign not specified 2024-04-26 criteria provided, single submitter clinical testing

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