ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) (rs201807974)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664993 SCV000789043 uncertain significance GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2016-12-27 criteria provided, single submitter clinical testing
Mendelics RCV000987138 SCV001136359 uncertain significance GM1 gangliosidosis type 2 2019-05-28 criteria provided, single submitter clinical testing

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