Submissions for variant NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile)

gnomAD frequency: 0.00253  dbSNP: rs72650663

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000652110	SCV000773978	likely benign	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001729676	SCV002544086	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	IFIH1: BP4, BS1, BS2
Genetics and Molecular Pathology, SA Pathology	RCV002272314	SCV002556539	likely benign	Aicardi-Goutieres syndrome 7	2020-06-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003918069	SCV004729850	benign	IFIH1-related disorder	2020-02-25	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	RCV001729676	SCV001977949	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729676	SCV001980372	likely benign	not provided		no assertion criteria provided	clinical testing