ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.679-33C>G

gnomAD frequency: 0.29685  dbSNP: rs4239963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829408 SCV000971136 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV002245698 SCV002514931 benign Infantile-onset X-linked spinal muscular atrophy 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003489921 SCV004233213 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 63% of patients studied by a panel of primary immunodeficiencies. Number of patients: 60. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000829408 SCV005277662 benign not provided criteria provided, single submitter not provided

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