ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2682G>A (p.Lys894=)

gnomAD frequency: 0.00019  dbSNP: rs374488772
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873794 SCV001015854 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001796293 SCV004147075 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing IFIH1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796293 SCV002034048 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796293 SCV002038425 likely benign not provided no assertion criteria provided clinical testing

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