ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.878G>A (p.Arg293Gln)

gnomAD frequency: 0.20123  dbSNP: rs7380824
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514934 SCV001722902 benign STING-associated vasculopathy with onset in infancy 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001615191 SCV001837087 benign not provided 2018-08-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29632140, 30368497, 24204993, 27927967, 21248775)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264366 SCV002543068 benign Autoinflammatory syndrome 2022-01-14 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399284 SCV004102207 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.

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