ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1121G>A (p.Arg374His)

gnomAD frequency: 0.00041  dbSNP: rs145520044
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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 RCV000487851 SCV000575235 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing IFIH1: BP4
Invitae RCV001085647 SCV000773984 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-02-01 criteria provided, single submitter clinical testing

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