Submissions for variant NM_173660.5(DOK7):c.753G>A (p.Ala251=)

gnomAD frequency: 0.04559  dbSNP: rs59932476

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116894	SCV000150980	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116894	SCV000231823	benign	not specified	2014-12-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116894	SCV000316545	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000116894	SCV000519281	benign	not specified	2016-07-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509901	SCV001716812	benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001795165	SCV005304667	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795165	SCV002035404	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116894	SCV002037332	benign	not specified		no assertion criteria provided	clinical testing