ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.443G>A (p.Arg148His) (rs745864233)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626074 SCV000746698 pathogenic Mucopolysaccharidosis, MPS-IV-B 2017-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763097 SCV000893639 likely pathogenic GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-10-31 criteria provided, single submitter clinical testing

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