ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.933C>A (p.Tyr311Ter)

dbSNP: rs1057520076
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000437488 SCV000510780 uncertain significance not provided 2016-07-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001228685 SCV001401097 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-04-12 criteria provided, single submitter clinical testing

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