ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1793G>A (p.Arg598His)

gnomAD frequency: 0.00011  dbSNP: rs200945986
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662135 SCV000784478 uncertain significance Aicardi-Goutieres syndrome 7 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662136 SCV000784479 uncertain significance Singleton-Merten syndrome 1 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000688834 SCV000816458 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-15 criteria provided, single submitter clinical testing

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