ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1228819238
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674840 SCV000800241 uncertain significance GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-05-30 criteria provided, single submitter clinical testing

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