ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1479+1G>A (rs1022476871)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673840 SCV000799088 likely pathogenic GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-04-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731323 SCV000859125 pathogenic not provided 2018-01-15 criteria provided, single submitter clinical testing

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