ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.580G>T (p.Val194Leu)

gnomAD frequency: 0.00363  dbSNP: rs114834699
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554557 SCV000655350 benign STING-associated vasculopathy with onset in infancy 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263801 SCV002543052 benign Autoinflammatory syndrome 2021-04-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437280 SCV004164242 benign not provided 2024-02-01 criteria provided, single submitter clinical testing STING1: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003915632 SCV004736734 benign STING1-related disorder 2024-01-29 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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