ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) (rs778700089)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000679994 SCV000807431 pathogenic GM1 gangliosidosis type 2 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory homozygous in a 14-year-old female with regression starting at 2y, non-ambulatory, nonverbal, epilepsy, dysphagia, cerebellar atrophy, ataxia, spasticity, microcephaly, joint contractures, vision impairment
Counsyl RCV000668601 SCV000793230 uncertain significance GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-08-07 criteria provided, single submitter clinical testing

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