ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.846del (p.Thr283fs) (rs1553610382)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673140 SCV000798310 pathogenic GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-03-07 criteria provided, single submitter clinical testing

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