ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1735-15TC[7]

dbSNP: rs745361874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343636 SCV000443156 uncertain significance Morquio syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405716 SCV000443157 uncertain significance GM1 gangliosidosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001419273 SCV001621521 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-01-27 criteria provided, single submitter clinical testing

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