ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) (rs72555390)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671053 SCV000795993 pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-11-27 criteria provided, single submitter clinical testing
OMIM RCV000000974 SCV000021124 pathogenic GM1 gangliosidosis type 3 1992-03-01 no assertion criteria provided literature only
GeneReviews RCV001582457 SCV001821208 pathogenic Infantile GM1 gangliosidosis 2021-04-19 no assertion criteria provided literature only High prevalence in Japan; associated with GM1 adult form

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