ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) (rs398123350)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000675686 SCV000227122 pathogenic not provided 2013-08-30 criteria provided, single submitter clinical testing
Counsyl RCV000671504 SCV000796486 likely pathogenic GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-12-18 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675686 SCV000801395 pathogenic not provided 2017-11-13 no assertion criteria provided clinical testing

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