ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) (rs72555361)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673295 SCV000798479 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-03-12 criteria provided, single submitter clinical testing
OMIM RCV000000977 SCV000021127 pathogenic Infantile GM1 gangliosidosis 1992-05-01 no assertion criteria provided literature only

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