ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs)

dbSNP: rs569337014
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Total submissions: 4
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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 RCV000419118 SCV000511262 likely benign not provided 2016-07-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001088661 SCV000655024 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502462 SCV002807768 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 2021-11-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957899 SCV004770932 likely benign IFIH1-related disorder 2020-03-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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