ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter)

gnomAD frequency: 0.00006  dbSNP: rs201472224
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001362650 SCV001558680 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132468 SCV003810017 uncertain significance not provided 2022-11-30 criteria provided, single submitter clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV003132468 SCV004174927 likely pathogenic not provided 2021-04-20 no assertion criteria provided clinical testing

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