ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2469C>T (p.Ala823=)

gnomAD frequency: 0.10215  dbSNP: rs13418718
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527700 SCV000655030 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001527961 SCV001739111 benign not provided 2021-04-16 criteria provided, single submitter clinical testing

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