Submissions for variant NM_004247.4(EFTUD2):c.426+8G>A

gnomAD frequency: 0.62345  dbSNP: rs2289677

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116954	SCV000310021	benign	not specified		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000616555	SCV001875960	benign	Mandibulofacial dysostosis-microcephaly syndrome	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001668233	SCV001883851	benign	not provided	2018-07-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001668233	SCV002403255	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668233	SCV005253452	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116954	SCV000151063	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000616555	SCV000733689	benign	Mandibulofacial dysostosis-microcephaly syndrome		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116954	SCV001959402	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116954	SCV001963631	benign	not specified		no assertion criteria provided	clinical testing