ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)

gnomAD frequency: 0.00049  dbSNP: rs142348767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652103 SCV000773971 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726293 SCV004147081 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726293 SCV001962881 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726293 SCV001966475 likely benign not provided no assertion criteria provided clinical testing

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