ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.780C>G (p.Pro260=)

gnomAD frequency: 0.00002  dbSNP: rs763307375
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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 RCV000929129 SCV001074754 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432927 SCV004149346 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing GLB1: BP4, BP7

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