ClinVar Miner

Submissions for variant NM_001128148.3(TFRC):c.1468+77G>A

gnomAD frequency: 0.18728  dbSNP: rs526860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001685647 SCV001897226 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003401598 SCV004102386 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 31% of patients studied by a panel of primary immunodeficiencies. Number of patients: 30. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001685647 SCV005305729 benign not provided criteria provided, single submitter not provided

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