ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) (rs398123348)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174243 SCV000225512 pathogenic not provided 2013-02-18 criteria provided, single submitter clinical testing
Counsyl RCV000672348 SCV000797446 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-01-25 criteria provided, single submitter clinical testing

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