ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.61A>G (p.Thr21Ala)

gnomAD frequency: 0.00005  dbSNP: rs201903758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001435358 SCV001638178 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-11-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261364 SCV002542034 uncertain significance not provided 2021-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555195 SCV003530806 likely benign Inborn genetic diseases 2022-01-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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