ClinVar Miner

Submissions for variant NM_000404.2(GLB1):c.245C>T (rs72555393)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624609 SCV000741500 pathogenic Inborn genetic diseases 2016-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Counsyl RCV000669063 SCV000793764 likely pathogenic GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-08-30 criteria provided, single submitter clinical testing
OMIM RCV000000984 SCV000021134 pathogenic Gangliosidosis GM1 type 3 1994-06-01 no assertion criteria provided literature only

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