ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.858C>T (p.Thr286=)

gnomAD frequency: 0.00002  dbSNP: rs770638519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000253060 SCV000304053 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000253060 SCV000513158 likely benign not specified 2016-10-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000667352 SCV000791786 likely benign GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000926956 SCV001072528 likely benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-01-11 criteria provided, single submitter clinical testing

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