ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) (rs371582179)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665995 SCV000790224 likely pathogenic GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000665995 SCV000894314 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000239412 SCV000297796 pathogenic GM1 gangliosidosis type 2 2016-07-14 criteria provided, single submitter research

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