Submissions for variant NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)

gnomAD frequency: 0.00408  dbSNP: rs73740379

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081934	SCV000113869	benign	not specified	2013-07-05	criteria provided, single submitter	clinical testing
Invitae	RCV003764768	SCV000290437	benign	Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1	2023-11-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000264256	SCV000464162	uncertain significance	Juvenile myoclonic epilepsy	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000443244	SCV000510729	likely benign	not provided	2016-09-01	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000081934	SCV000512924	benign	not specified	2016-12-15	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.
PreventionGenetics, part of Exact Sciences	RCV003915095	SCV004731069	benign	EFHC1-related condition	2019-07-18	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).