ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) (rs72555359)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667074 SCV000791469 pathogenic GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-05-19 criteria provided, single submitter clinical testing
OMIM RCV000000972 SCV000021122 pathogenic Infantile GM1 gangliosidosis 1991-09-01 no assertion criteria provided literature only

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