ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.906G>A (p.Pro302=)

gnomAD frequency: 0.00010  dbSNP: rs775441863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087071 SCV001018052 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000875607 SCV001152469 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing

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