ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) (rs202237232)

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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 RCV000174475 SCV000225783 likely pathogenic not provided 2013-12-10 criteria provided, single submitter clinical testing
Counsyl RCV000668735 SCV000793384 uncertain significance GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-08-15 criteria provided, single submitter clinical testing

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