ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) (rs398123355)

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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 RCV000078717 SCV000110577 uncertain significance not provided 2013-10-30 criteria provided, single submitter clinical testing
Counsyl RCV000673411 SCV000798610 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-03-14 criteria provided, single submitter clinical testing
GenomeConnect - GM1 RCV001175293 SCV001338914 not provided GM1 gangliosidosis no assertion provided phenotyping only Variant interpreted most recently as Uncertain significance and reported on 08-23-2017 by Lab or GTR ID 239772. GenomeConnect-GM1 assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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