Submissions for variant NM_173660.5(DOK7):c.1185C>T (p.Tyr395=)

gnomAD frequency: 0.18472  dbSNP: rs6850908

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116887	SCV000150973	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116887	SCV000232353	benign	not specified	2014-11-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116887	SCV000316516	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000116887	SCV000518436	benign	not specified	2016-02-05	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	RCV001517175	SCV001725617	benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004715675	SCV005304680	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116887	SCV001931985	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116887	SCV001959427	benign	not specified		no assertion criteria provided	clinical testing