ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) (rs72555369)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667601 SCV000792079 uncertain significance GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-06-21 criteria provided, single submitter clinical testing
OMIM RCV000000992 SCV000021142 pathogenic Mucopolysaccharidosis, MPS-IV-B 2001-08-01 no assertion criteria provided literature only

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