Submissions for variant NM_018100.4(EFHC1):c.881G>A (p.Arg294His)

gnomAD frequency: 0.00969  dbSNP: rs1570624

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116952	SCV000168306	benign	not specified	2012-12-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV003764822	SCV000562687	benign	Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1	2023-12-07	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576679	SCV000677288	benign	Juvenile myoclonic epilepsy	2017-05-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116952	SCV000151061	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	RCV001529255	SCV001742397	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529255	SCV001930482	likely benign	not provided		no assertion criteria provided	clinical testing