ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.33G>A (p.Pro11=)

gnomAD frequency: 0.00080  dbSNP: rs149842998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652342 SCV000774212 benign STING-associated vasculopathy with onset in infancy 2024-01-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263911 SCV002543046 benign Autoinflammatory syndrome 2021-06-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945669 SCV004759068 benign STING1-related disorder 2024-01-28 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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