ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.734-99G>T

dbSNP: rs72856120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001527563 SCV001738654 benign Infantile GM1 gangliosidosis 2021-06-15 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527564 SCV001738655 benign Mucopolysaccharidosis, MPS-IV-B 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001692445 SCV001913281 benign not provided 2018-08-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692445 SCV005245080 benign not provided criteria provided, single submitter not provided

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