Submissions for variant NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)

gnomAD frequency: 0.00006  dbSNP: rs369503191

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116945	SCV000151054	uncertain significance	not provided	2013-10-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000173878	SCV000225043	benign	not specified	2015-01-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000173878	SCV000240920	likely benign	not specified	2015-10-06	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.
Illumina Laboratory Services, Illumina	RCV000403217	SCV000464176	uncertain significance	Juvenile myoclonic epilepsy	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003764816	SCV000562686	benign	Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1	2023-08-04	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000116945	SCV000841981	benign	not provided	2018-04-11	criteria provided, single submitter	clinical testing