ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1032G>A (p.Lys344=)

dbSNP: rs1057522887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429255 SCV000529846 likely benign not specified 2016-07-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002059795 SCV002321993 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-07-25 criteria provided, single submitter clinical testing

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