Submissions for variant NM_173660.5(DOK7):c.1113A>C (p.Ser371=)

gnomAD frequency: 0.18181  dbSNP: rs6811856

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116884	SCV000150970	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116884	SCV000232351	benign	not specified	2014-11-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116884	SCV000316513	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000116884	SCV000518435	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	RCV001517173	SCV001725615	benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004715672	SCV005304676	benign	not provided		criteria provided, single submitter	not provided