ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.212G>A (p.Arg71His)

gnomAD frequency: 0.12831  dbSNP: rs11554776
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001517533 SCV001726046 benign STING-associated vasculopathy with onset in infancy 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001724330 SCV001950788 benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21248775, 27927967, 24204993, 29632140)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264370 SCV002543040 benign Autoinflammatory syndrome 2022-01-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399299 SCV004102221 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 45% of patients studied by a panel of primary immunodeficiencies. Number of patients: 43. Only high quality variants are reported.

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