Submissions for variant NM_018100.4(EFHC1):c.25T>C (p.Leu9=)

gnomAD frequency: 0.00264  dbSNP: rs149315015

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116948	SCV000168316	benign	not specified	2013-09-20	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.
Eurofins Ntd Llc (ga)	RCV000116948	SCV000224578	likely benign	not specified	2014-08-06	criteria provided, single submitter	clinical testing
Invitae	RCV003764819	SCV000562681	benign	Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1	2023-10-03	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000576377	SCV000677284	benign	Juvenile myoclonic epilepsy	2017-05-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935113	SCV004752249	likely benign	EFHC1-related condition	2021-10-04	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago	RCV000116948	SCV000151057	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.