ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys)

gnomAD frequency: 0.00009  dbSNP: rs180843163
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048736 SCV001212755 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497390 SCV002783003 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 2021-11-16 criteria provided, single submitter clinical testing

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