ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) (rs398123349)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668115 SCV000792666 likely pathogenic GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-07-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174675 SCV000226018 pathogenic not provided 2012-10-18 criteria provided, single submitter clinical testing

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