ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.505A>T (p.Lys169Ter)

gnomAD frequency: 0.00001  dbSNP: rs201495678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488289 SCV000575236 likely pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV003766735 SCV004585821 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-05-30 criteria provided, single submitter clinical testing

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