ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.144_148del (p.Arg48fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131251 SCV003813240 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing
Invitae RCV003778712 SCV004572945 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-11-18 criteria provided, single submitter clinical testing

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