ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly)

gnomAD frequency: 0.00024  dbSNP: rs74162074
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652098 SCV000773966 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997249 SCV001152470 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000997249 SCV005412910 uncertain significance not provided 2024-04-03 criteria provided, single submitter clinical testing BP4

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