Submissions for variant NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser)

gnomAD frequency: 0.00258  dbSNP: rs143577015

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193660	SCV000247707	benign	not specified	2017-08-04	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224826	SCV000280841	benign	not provided	2016-04-01	criteria provided, single submitter	clinical testing
Invitae	RCV000224826	SCV000653829	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000224826	SCV000842564	benign	not provided	2018-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002460969	SCV000846938	benign	Inborn genetic diseases	2016-06-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000224826	SCV001892260	benign	not provided	2019-09-17	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000224826	SCV001740381	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000193660	SCV001926711	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224826	SCV001971250	likely benign	not provided		no assertion criteria provided	clinical testing