Submissions for variant NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)

gnomAD frequency: 0.00010  dbSNP: rs139714761

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514732	SCV000609793	uncertain significance	not provided	2017-06-02	criteria provided, single submitter	clinical testing
Invitae	RCV001086220	SCV000826738	likely benign	Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7	2023-10-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000514732	SCV001770848	uncertain significance	not provided	2020-03-23	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
CeGaT Center for Human Genetics Tuebingen	RCV000514732	SCV004147084	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing	IFIH1: PM2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514732	SCV001741041	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514732	SCV001970273	likely benign	not provided		no assertion criteria provided	clinical testing