ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.397-1G>A (rs398123353)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178086 SCV000230081 pathogenic not provided 2012-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000667741 SCV000792240 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-06-13 criteria provided, single submitter clinical testing

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