ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.955+60A>G

gnomAD frequency: 0.75289  dbSNP: rs12632196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837695 SCV000979555 benign not provided 2018-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Pars Genome Lab RCV001527558 SCV001738648 benign Infantile GM1 gangliosidosis 2021-06-15 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527559 SCV001738649 benign Mucopolysaccharidosis, MPS-IV-B 2021-06-15 criteria provided, single submitter clinical testing

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