ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.261C>T (p.Gly87=)

gnomAD frequency: 0.00005  dbSNP: rs775555538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002002015 SCV002216046 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-03-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434364 SCV004147091 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing IFIH1: BP4, BP7

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