ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) (rs756878418)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669165 SCV000793885 likely pathogenic GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-09-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597388 SCV000700521 pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing

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