ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg)

gnomAD frequency: 0.00111  dbSNP: rs72650664
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652112 SCV000773980 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499123 SCV002807236 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 2021-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965398 SCV004782807 benign IFIH1-related disorder 2019-03-21 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703226 SCV001930536 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726294 SCV001965202 benign not specified no assertion criteria provided clinical testing

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