ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2808-75G>T

gnomAD frequency: 0.03297  dbSNP: rs3761652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733243 SCV001981852 likely benign not provided 2021-04-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003401667 SCV004102206 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 46% of patients studied by a panel of primary immunodeficiencies. Number of patients: 44. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001733243 SCV005256378 likely benign not provided criteria provided, single submitter not provided

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